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Gene: Gnrh1 MGI:95789

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gonadotropin releasing hormone 1
Synonyms:
LHRH,  LNRH

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Gnrh1 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 Gnrh1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432

The table below shows human diseases predicted to be associated to Gnrh1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating luteiniz... OMIM:614837
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... OMIM:612781
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Decreased response t... ORPHA:157954
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Hypopigmented skin patches, Perin... ORPHA:199310
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Summitt Syndrome
Obesity OMIM:272350
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia OMIM:605231
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Cleft palate,... OMIM:615300
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... ORPHA:456328
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Decreased response... OMIM:275400
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Small for gestational age, Abnormality of the endocrine system, Cryptorchidism, Ve... ORPHA:95706
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Intellectual Developmental Disorder, Autosomal Recessive 44
Bifid uvula, Shawl scrotum OMIM:615942
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Absence of pubertal deve... OMIM:212840
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Invasive Mole
Menometrorrhagia ORPHA:99925
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Cleft palate, Central hypothyroidism, Micr... OMIM:616784
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche OMIM:616863
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Small for gestational age, Dysmenorrhea, Cryptorchidism, Cleft palate... ORPHA:397590
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Decreased fertility... ORPHA:1643
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Thin skin, Aplasia cu... ORPHA:217346
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Narcolepsy Type 1
Obesity ORPHA:2073
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,... ORPHA:2234
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... OMIM:620303
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resis... ORPHA:79083
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Müllerian Aplasia And Hyperandrogenism
Obesity, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone... ORPHA:247768
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, High palate, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Palmar pits, Digi... ORPHA:79145
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic... ORPHA:2348
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... ORPHA:85282
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Autosomal Dominant Omodysplasia
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia ORPHA:93328
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Hypopigmented macule, Hypermelanotic macule, Decreased body weight OMIM:616681
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Atypical scarring of skin, Atrophic scars, Thin skin, Testicular torsion ORPHA:75496
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Renal phosphate wasting, Ovarian cyst, Increased circulating... ORPHA:562
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum ORPHA:2256
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Mic... OMIM:617516
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1621
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Cowden Syndrome 6
Colonic diverticula, Skin tags, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, ... OMIM:615109
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B... OMIM:601076
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormality of the scrotum, Hypermelanotic macule, Supernumerary nipple ORPHA:64755
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p... OMIM:305400
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum ORPHA:1547
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Temple Syndrome
Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati... ORPHA:254516
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Lumbar Syndrome
Bifid scrotum, Skin tags, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypop... ORPHA:83628
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vag... OMIM:615989
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Nephrotic syndrome, H... ORPHA:110
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
1Q21.1 Microduplication Syndrome
Cryptorchidism, Failure to thrive, Hypospadias ORPHA:250994
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Preauricular pit, Shawl scrotum OMIM:614187
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Image Syndrome
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis ORPHA:85173
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Cleft palate, Hypohidrosis, Thin skin,... ORPHA:1812
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Cleft ... OMIM:300148
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the skin, Diabetes mellitus, Polycystic ovaries, Aplasia/Hypoplasia of the ... ORPHA:100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive ORPHA:370921
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Cowden Syndrome 1
Colonic diverticula, Skin tags, Hyperthyroidism, Acrokeratosis, Thyroiditis, Furrowed tongue, Hyd... OMIM:158350
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Failure to thrive, Hypogonadotropic hypogonadism OMIM:619310
Tetralogy Of Fallot
Preauricular pit, Cryptorchidism ORPHA:3303
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive ORPHA:370924
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... OMIM:300200
Chromosome 15Q26-Qter Deletion Syndrome
Small for gestational age, Hypospadias, Cryptorchidism, Micropenis, Failure to thrive OMIM:612626
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive, Adrenal hypoplasia OMIM:619151
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive OMIM:615597
Gordon Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:376
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... ORPHA:1552
X-Linked Intellectual Disability, Cantagrel Type
Shawl scrotum ORPHA:85277
Penoscrotal Transposition
Abnormal external genitalia, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, ... ORPHA:2842
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Failure to thrive, Thin skin OMIM:219150
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypopigmented skin patches ORPHA:1295
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Inc... OMIM:614736
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, High palate, Anterior hypopituitarism, Anal atresia ORPHA:2863
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Psoriasiform dermatitis, Diabetes mellitus, Septate vagi... ORPHA:2237
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Adiposis Dolorosa
Obesity OMIM:103200
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea OMIM:191830
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Thin skin, Abnormal sweat gland morphology OMIM:607823
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Nevus, Shawl scrotum ORPHA:1778
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Aplasia/Hypoplasia of the skin, Diabetes mellitus, Decreased adiponectin level, Decreased serum l... ORPHA:280365
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum ORPHA:2505
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, High palate, Small pituitary g... OMIM:612702
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Renal hypoplasia, Hypoth... ORPHA:85321
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Carney Complex
Neoplasm of the stomach, Atypical nevi in non-sun exposed areas, Increased body weight, Thyroid c... ORPHA:1359
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... OMIM:614732
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Hyperins... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Hyperins... ORPHA:71526
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate, Failur... ORPHA:1703
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, Hypogonadotropic h... OMIM:241080
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, High palate, Thin skin, Failure to thrive, A... OMIM:617602
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... ORPHA:3097
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atresia, Bifid uvula OMIM:616258
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, Ab... OMIM:209900
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... OMIM:154230
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis, Failure to thrive, Renal insufficiency OMIM:613861
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... OMIM:236700
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus, Small for gestational age, Thin skin OMIM:269880
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Sacral dimple, Hypospadias, High palate, Shawl scrotum OMIM:239710
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Obesity, Type II diabetes mellitus, Dis... ORPHA:2377
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Cree Mental Retardation Syndrome
Bifid scrotum, Hypospadias, Cleft soft palate, Cryptorchidism, Webbed neck OMIM:606851
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Hydronephrosis, High palate, Abnormality of the uter... ORPHA:1655
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Cleft palate, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased te... OMIM:614880
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Esophageal stric... OMIM:617053
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... ORPHA:672
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Lower lip pit, Cleft pala... OMIM:119500
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Teebi Hypertelorism Syndrome 1
Preauricular pit, Hypopigmented macule, Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Acrofacial Dysostosis, Catania Type
Preauricular pit, Cryptorchidism, Hypospadias OMIM:101805
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Unilateral renal hypoplasia, Decreased body weight OMIM:617564
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Ab... ORPHA:887
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Abdominal obesity,... OMIM:219090
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis... ORPHA:237
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... OMIM:202110
Perlman Syndrome
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology, Hyperinsu... ORPHA:2849
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum ORPHA:2575
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Cryptorchidism, Ureterocele... ORPHA:261265
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Lip pit, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Am... ORPHA:1300
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Webbed neck, Micropenis ORPHA:3134
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia ORPHA:1381
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Webbed neck,... ORPHA:1580
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Cleft palate ORPHA:1912
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Clef... OMIM:615849
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... OMIM:600955
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Orthostatic Hypotension 1
Retrograde ejaculation, High palate, Nocturia, Reduced circulating prolactin concentration OMIM:223360
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Premature thelarc... ORPHA:90795
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate OMIM:615524
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Coffin-Siris Syndrome 8
Cryptorchidism, Failure to thrive OMIM:618362
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia ORPHA:3301
Silver-Russell Syndrome 1
Urethral valve, Small for gestational age, Hypospadias, Decreased response to growth hormone stim... OMIM:180860
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate ORPHA:66629
Aarskog-Scott Syndrome
Cryptorchidism, Cleft palate, Shawl scrotum ORPHA:915
Familial Cervical Artery Dissection
Diabetes mellitus, Thin skin, Striae distensae ORPHA:36382
3Mc Syndrome 3
Bifid scrotum, Sacral dimple, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penoscr... OMIM:248340
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Cleft palate OMIM:612370
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Xeroderma Pigmentosum
Macule, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patches, Melanocytic nevus, Ami... ORPHA:910
Meier-Gorlin Syndrome 1
Small for gestational age, Cryptorchidism, Hypoplastic labia minora, Cleft palate, Hypoplastic la... OMIM:224690
Craniofrontonasal Dysplasia
High palate, Hypospadias, Shawl scrotum ORPHA:1520
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test... ORPHA:127
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin, Hypohidrosis ORPHA:1658
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm, Hypohidrosis OMIM:308100
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea, Malabsorption OMIM:600705
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Mmep Syndrome
Cryptorchidism ORPHA:3434
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Rapp-Hodgkin Syndrome
Hypospadias, Supernumerary nipple, Velopharyngeal insufficiency, Cleft palate, Hypohidrosis, Hypo... OMIM:129400
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Hypospadias, Cryptorchidism, Failure to thrive, Aplasia cutis congenita of scalp OMIM:613026
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Anteriorly placed anus ORPHA:280195
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Uterus didelphys, Intestinal dup... ORPHA:1756
Branchial Arch Syndrome, X-Linked
Cryptorchidism, High palate, High, narrow palate, Webbed neck OMIM:301950
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to growth... OMIM:129900
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... OMIM:300519
Hand-Foot-Genital Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... OMIM:140000
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Skin dimple ORPHA:2958
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias, Abnormal intestine morphology ORPHA:3080
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:619189
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Hypopigmented skin patches, Cleft palate, High palate ORPHA:1784
Pseudoprogeria Syndrome
Failure to thrive, Thin skin, Decreased body weight ORPHA:2985
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Cryptorch... ORPHA:2970
Congenital Primary Megaureter
Abnormal penis morphology, Nephrolithiasis, Congenital megaureter, Vesicoureteral reflux, Microsc... ORPHA:617
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating luteinizing hormone level, Unilateral renal agene... OMIM:618419
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Dysuria, Hashimoto thyroiditis, Renovascular hypert... ORPHA:49041
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis, Thin skin OMIM:614438
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Cryptorchidism, Hydromet... ORPHA:2473
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... ORPHA:281090
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Macroglossia, Abdominal obesity, Hypogonadism, Delayed puberty, Micr... OMIM:300354
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Subcutaneous nodule, Narrow palate, Cleft palate, Anteriorly place... ORPHA:1555
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Preauricular pit, Cryptorchidism, Sacral dimple, High, narrow palate OMIM:273390
Arthrogryposis, Distal, Type 1C
Cryptorchidism, Cleft palate, High palate, Decreased body weight, Bifid uvula OMIM:619110
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism, Small for gestational age ORPHA:319332
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Prieto Syndrome
Cryptorchidism, Skin dimple OMIM:309610
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... ORPHA:280679
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Cle... OMIM:244200
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Alazami-Yuan Syndrome
Cryptorchidism, High palate OMIM:617126
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Oeis Complex
Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitali... OMIM:258040
Diphallia
Bifid scrotum, Ureteral duplication, Rectoperineal fistula, Hypospadias, Distal urethral duplicat... ORPHA:227
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, High palate, Micropenis, Decre... ORPHA:457240
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Nephronophthisis 15
Obesity OMIM:614845
Temple Syndrome
Decreased testicular size, Small for gestational age, Maturity-onset diabetes of the young, Preco... OMIM:616222
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabetes of the young, Unilateral ren... OMIM:137920
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Dec... OMIM:618336
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... OMIM:262190
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anus,... OMIM:151050
Cornelia De Lange Syndrome 5
Cryptorchidism, Cleft palate, Truncal obesity, High palate, Hypogonadism, Nevus, Micropenis, Decr... OMIM:300882
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, 3-Methylglutaric aciduria OMIM:250951
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Webbed neck, Micropenis OMIM:312830
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shou... ORPHA:813
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... OMIM:201750
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis, Failure to thrive OMIM:620071
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Small for gestational age, Melanocytic nevus, Decreased body weight, A... OMIM:616489
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Non-Distal Duplication 10Q
Cryptorchidism, High palate ORPHA:1695
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis OMIM:619180
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Failure to thrive, Thin skin ORPHA:261304
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cryptorchidism, Hypospadias OMIM:620135
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Breast aplasia, Hypoplastic nipples, Shawl scrotum, Failure to th... ORPHA:1231
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:2772
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Camptobrachydactyly
Septate vagina ORPHA:1319
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Acrogeria
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Failure to thrive... ORPHA:456312
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Failure to thrive OMIM:604317
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, High palate OMIM:618393
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Adrenocortical Carcinoma
Increased urinary cortisol level, Striae distensae, Diabetes mellitus, Paradoxical increased cort... ORPHA:1501
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal transposition,... OMIM:619148
Pallister-Hall-Like Syndrome
Cleft palate, Micropenis, Hypothalamic hamartoma, Microglossia, Anterior hypopituitarism OMIM:241800
Dermoodontodysplasia
Hypohidrosis, Thin skin, Melanocytic nevus ORPHA:1660
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig... ORPHA:3063
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Abnormality of the urethra, Xerostomia, Hypopigmented skin patches... ORPHA:2907
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Thin skin ORPHA:157965
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ... ORPHA:98813
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Thin skin, Horseshoe kidney OMIM:613630
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... OMIM:609757
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Silver-Russell Syndrome 2
Thin skin, Hyperhidrosis OMIM:618905
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora OMIM:207410
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, High palate, Decreased response to growth hormone stimulation test, Del... OMIM:615866
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Cryptorchidism, Webbed neck ORPHA:638
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism, Decreased body weight OMIM:272440
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena... OMIM:613390
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Ambiguou... ORPHA:452
Warburg Micro Syndrome 1
Cryptorchidism, Failure to thrive, External genital hypoplasia OMIM:600118
Kaufman Oculocerebrofacial Syndrome
Intestinal malrotation, Hypoplastic labia majora, High palate, Thin skin, Preauricular skin tag, ... OMIM:244450
Lig4 Syndrome
Psoriasiform dermatitis, Small for gestational age, Cryptorchidism, Type II diabetes mellitus, Mi... OMIM:606593
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Cryptorchidism, Melanocytic nevus OMIM:618786
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Ureteral stenosis, Thin skin ORPHA:2719
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Infertility... ORPHA:71273
Ohdo Syndrome, X-Linked
Small scrotum, Hiatus hernia, Cryptorchidism, Cafe-au-lait spot, High palate, Shawl scrotum, Micr... OMIM:300895
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Epididymitis, Vaginal hydrocele, Hydrocele testis, Nep... ORPHA:2035
Dermoodontodysplasia
Thin skin OMIM:125640
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Numerous nevi, Penile freckling, Hurthle cell thyroid adenoma, Thyroid carc... ORPHA:210548
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Camptobrachydactyly
Urinary incontinence, Septate vagina OMIM:114150
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Cr... ORPHA:94065
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Pyloric... OMIM:181450
Distal Duplication 15Q
Cryptorchidism, High palate, Abnormality of female external genitalia, Anal atresia ORPHA:1707
Chand Syndrome
Hydroureter, Cleft palate, Hypohidrosis, Skin erosion, Commissural lip pit, Bifid tongue, Imperfo... ORPHA:1401
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, High palate, Thin skin, Webbed neck, Bifid uvula OMIM:612350
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy ORPHA:1192
Frasier Syndrome
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea OMIM:136680
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal... OMIM:613743
Nelson Syndrome
Increased urinary cortisol level, Striae distensae, Testicular neoplasm, Pituitary corticotropic ... ORPHA:199244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Cryptorchidism, Stage 5 chronic kidney disease, Nephrot... OMIM:617575
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Atypical Werner Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Premature ovarian insufficiency, Diabetes mell... ORPHA:79474
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Cryptorchidi... OMIM:257300
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Hypospadias, Small for gestational age, Supernumerary nipple, Glandular hypospadias, Narrow palat... OMIM:604314
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Recessive X-Linked Ichthyosis
Cryptorchidism, Hypohidrosis ORPHA:461
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Asymmetric, linear skin defects, Cleft palate, Hypoplasia of the uterus, ... OMIM:309801
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism OMIM:614613
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin, Hypohidrosis ORPHA:1810
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cryptorchidism, Micropenis ORPHA:370968
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Multiple cafe-au-lait spots, Cryptorchidism, High palate, Decreased testicular size ORPHA:85279
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus OMIM:300957
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test ORPHA:1261
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Cleft palate, High palate, Decreased body weight, Micropenis, Fail... OMIM:617164
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Chung-Jansen Syndrome
Cryptorchidism, Cafe-au-lait spot, High palate, Obesity OMIM:617991
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the ureter, Obesity, Hypogonadism ORPHA:3409
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Hypogonadism ORPHA:2983
Oculocerebrocutaneous Syndrome
Cryptorchidism, Focal dermal aplasia/hypoplasia, Cleft palate OMIM:164180
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis ORPHA:2083
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, High palate, Webbed neck ORPHA:178148
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Small for gestational age OMIM:610756
Exstrophy-Epispadias Complex
Bifid scrotum, Anal stenosis, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias... ORPHA:322
4H Leukodystrophy
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:289494
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Cryptorchidism, Cafe-au-lait spot, High palate, Thin skin, Webbed neck, Failure... OMIM:617506
X-Linked Intellectual Disability, Seemanova Type
Small for gestational age, Cryptorchidism, High palate, Hypogonadism ORPHA:85323
Pierpont Syndrome
Cryptorchidism, Micropenis, Failure to thrive, Decreased body weight OMIM:602342
De Barsy Syndrome
Cryptorchidism, Failure to thrive, High palate, Thin skin ORPHA:2962
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum ORPHA:1970
20Q11.2 Microduplication Syndrome
Bifid scrotum, Cryptorchidism, Micropenis, Sacral dimple ORPHA:363659
Trisomy 5P
Obesity ORPHA:1742
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Cryptorchidism, Micropenis OMIM:614684
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Opitz Gbbb Syndrome
Bifid scrotum, Preauricular pit, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal... ORPHA:2745
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, External genital hypoplasia, Spotty hypopigmentation ORPHA:1867
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Vaginal atresia OMIM:248450
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Cleft palate, Delayed puberty,... OMIM:147950
Trichothiodystrophy 5, Nonphotosensitive
Micropenis, Panhypopituitarism, Decreased testicular size OMIM:300953
3-Methylglutaconic Aciduria, Type V
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Failure to t... OMIM:610198
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Biemond Syndrome Type 2
Obesity ORPHA:141333
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, High palate, Cleft palate OMIM:618388
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, High palate, Hypogonadotropic hypogonadism, Furrowed tongue ORPHA:1387
Abruzzo-Erickson Syndrome
Cryptorchidism, Hypospadias, Coronal hypospadias, Cleft palate ORPHA:921
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Donohue Syndrome
Hypermelanotic macule, Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic... OMIM:246200
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith... OMIM:606407
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine le... ORPHA:1439
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
17Q23.1Q23.2 Microdeletion Syndrome
Sacral dimple, Failure to thrive, Shawl scrotum ORPHA:261279
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to ... OMIM:176270
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Cleft palate, Webbed ne... OMIM:151100
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Cleft palate, Azoos... ORPHA:10
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Cafe-au-lait spot, Increased body weight ORPHA:589905
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:743
Distal Duplication 18Q
Cryptorchidism, Hypoplasia of penis, High palate, Abnormality of female external genitalia ORPHA:1716
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Submuc... ORPHA:2282
Apert Syndrome
Cryptorchidism, Esophageal atresia, Pyloric stenosis, Cleft palate, Narrow palate, Hyperhidrosis,... OMIM:101200
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Cleft palate, Urethral atresia, Adre... OMIM:273395
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Skin tags, Preauricular pit, Hypospadias, Narrow palate, Hypoplastic labia majora,... OMIM:123790
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... ORPHA:284339
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Microcephalic Primordial Dwarfism, Montreal Type
Hyperhidrosis, Cryptorchidism, Congenital pyloric atresia, Shagreen patch ORPHA:2617
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Anal stenosis, Multicystic kidney dysplasia, Cry... ORPHA:2052
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, High palate, H... ORPHA:3306
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal... ORPHA:3157
Gm1 Gangliosidosis
Macroglossia, Failure to thrive, Abnormality of the scrotum, Weight loss ORPHA:354
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Thin skin, Ambiguous genitalia, Abnormality of female external genitalia, Br... ORPHA:920
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Micropenis OMIM:600460
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Cleft palate, Azoospermia, Hypogonad... ORPHA:96263
Morm Syndrome
Truncal obesity ORPHA:75858
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Erythematous plaque, Thin skin, Dermal atrophy, Milia ORPHA:158673
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... ORPHA:91
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Oral leukoplakia OMIM:618165
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin, Adrenal hypoplasia ORPHA:230839
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia ORPHA:168816
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo... ORPHA:2795
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Orofaciodigital Syndrome Type 4
Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal atresia, Primary adrenal ins... ORPHA:2753
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Anal atresia, Supernumerary nipple OMIM:619243
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Steatorrhea, Failure to thrive, Hypothyroidism, Delayed p... OMIM:616263
Urofacial Syndrome 1
Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruction, Enuresis, Hydronephrosis OMIM:236730
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Abnormal tongue morphology, Hyperinsulinemia, High palate, T... ORPHA:2457
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia, Obesity ORPHA:65759
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Horsesho... ORPHA:2470
Van Maldergem Syndrome 2
Bifid scrotum, Sacral dimple, Hypospadias, Cryptorchidism, Renal hypoplasia, Anteriorly placed an... OMIM:615546
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypoplastic female external genitalia OMIM:618577
20Q13.33 Microdeletion Syndrome
Sacral dimple, Small for gestational age, Hypospadias, Decreased scrotal rugation, Failure to thr... ORPHA:261311
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin OMIM:617364
Chromosome 16Q22 Deletion Syndrome
Small for gestational age, Hypospadias, Cryptorchidism, High palate, Failure to thrive OMIM:614541
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Esophagea... ORPHA:2538
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... OMIM:222300
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Subcutaneous nodule, Anteriorly placed anus, ... ORPHA:857
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Horseshoe kidney, High palate, Hypoplastic male external genitalia, Failure to th... ORPHA:502434
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435660
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Cryptorchidism, High, narrow palate, Micropenis, Bifid uvula ORPHA:2872
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Sex reversal, Abnormality of ... ORPHA:139466
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Cryptorchidism, High palate, Delayed puberty ORPHA:486815
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, High palate, Abnormal renal physiology... ORPHA:96176
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Sacral dimple, Hypospadias, Epispadias, Shawl scrotum ORPHA:2211
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Cryptorchidism, Cleft palate, Shawl scrotum, Breast hypoplasia OMIM:601353
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Burkitt Lymphoma
Intestinal obstruction, Abnormality of the ovary ORPHA:543
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae OMIM:225310
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Obesity, Renal hypoplasia, Micropenis ORPHA:171839
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, High palate OMIM:611890
Weaver Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3447
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Melanocytic nevus, Pyelonephritis, Oligozoospermia, Keloids, Nephritis OMIM:314300
Warburg Micro Syndrome 4
Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size OMIM:615663
Rahman Syndrome
Cryptorchidism, Nevus OMIM:617537
Joubert Syndrome 37
Cryptorchidism, Obesity, Hydronephrosis, High palate, Micropenis, Decreased testicular size OMIM:619185
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Obesity, Hypogonadism, Micropenis OMIM:615547
Beta-Ureidopropionase Deficiency
Bifid scrotum, Bladder exstrophy, Anal atresia OMIM:613161
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter... ORPHA:495875
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Failure to thrive OMIM:618958
Diabetic Embryopathy
Ureteral duplication, Cryptorchidism, Cleft palate, Micropenis, Abnormal morphology of female int... ORPHA:1926
Congenital Myopathy 19
Cryptorchidism, High palate, Hydronephrosis OMIM:618578
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Gorlin Syndrome
Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Plantar pits, Melanocytic nevus ORPHA:377
Freeman-Sheldon Syndrome
Cryptorchidism, Failure to thrive ORPHA:2053
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Hypohidrosis, Nephrotic syndrome, Breast aplasia, Thin skin, Failure to thrive ORPHA:238468
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Dermal atrophy, Cryptorchidism OMIM:615381
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Periauricular skin pits, Small for gestational age ORPHA:352490
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism, High palate, Webbed neck, Failure to thrive OMIM:619542
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, High, narrow palate, Obesi... OMIM:615873
Microphthalmia, Syndromic 9
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ... OMIM:601186
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis, Cleft palate ORPHA:1636
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Ohdo Syndrome
Cryptorchidism, Small scrotum, Proteinuria OMIM:249620
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, La... OMIM:164745
Periventricular Nodular Heterotopia
Pyloric stenosis, Thin skin ORPHA:98892
Craniofrontonasal Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Webbed neck, Shawl scrotum, Unilateral breast hypoplas... OMIM:304110
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypop... OMIM:603467
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Cleft palate ORPHA:1166
Allan-Herndon-Dudley Syndrome
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Crypt... ORPHA:59
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Numerous nevi, Cryptorchidism, Cleft palate, Atrophic scars, Hypogonadi... ORPHA:536471
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate OMIM:601349
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... OMIM:300707
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolo... OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Cryptorchidism, Micropenis OMIM:613156
Townes-Brocks Syndrome 1
Bifid scrotum, Preauricular pit, Anal stenosis, Rectoperineal fistula, Hypospadias, Small for ges... OMIM:107480
Tonne-Kalscheuer Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Micropenis, Decreased testicular size OMIM:300978
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hypopigmented skin patches, High palat... ORPHA:2115
Chromosome 18P Deletion Syndrome
Small for gestational age, Cryptorchidism, Gonadal dysgenesis, High palate, Micropenis, Decreased... OMIM:146390
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity, Renal hyp... ORPHA:464288
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Protein-losing enteropathy, Decreased circulating T4 concentration, Failure to th... OMIM:608104
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Small for gestational age OMIM:618484
Premature Aging Syndrome, Penttinen Type
Skin nodule, Elevated circulating thyroid-stimulating hormone concentration, Thin skin, Dermal at... OMIM:601812
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, High palate, Cleft palate, Decreased body weight OMIM:600325
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Sacral dimple, Cleft palate OMIM:615502
Hypertriglyceridemia 1
Hypopituitarism, Atheroeruptive xanthoma OMIM:145750
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Cleft palate, Azoospermia, Hypogonadism, Infe... ORPHA:96264
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... OMIM:618820
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1, Numerous nevi ORPHA:314389
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Protruding tongue, Cryptorchidism, Macroglossia, Shawl scrotum, Micropenis, Hydronep... OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Summitt Syndrome
Obesity, Tall stature ORPHA:3210
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Failure to thrive, Unilateral cryptorchidism OMIM:617788
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hypospadias, Large for gestational age, Cryptorchidism, Hypopigmented skin p... ORPHA:457485
Werner Syndrome
Aplasia/Hypoplasia of the skin, Decreased fertility, Skin ulcer, Ovarian neoplasm, Secondary amen... ORPHA:902
Loeys-Dietz Syndrome
Atypical scarring of skin, High palate, Thin skin, Uterine rupture, Bifid uvula, Striae distensae ORPHA:60030
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Thin skin ORPHA:449291
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Aplasia/Hypoplasia of the skin, Nevus, Cryptorchidism, Absenc... ORPHA:2990
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Renal hypoplasia, Cleft palate,... OMIM:219000
Seckel Syndrome 5
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy OMIM:613823
Wt Limb-Blood Syndrome
Cryptorchidism OMIM:194350
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... ORPHA:268261
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Immunodeficiency 61
Obesity OMIM:300310
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Trisomy 13
Preauricular pit, Preauricular skin tag, High, narrow palate, Cryptorchidism, Abnormality of the ... ORPHA:3378
Warburg Micro Syndrome 2
Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum OMIM:614225
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Multiple bladder diverticula ORPHA:2728
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Cleft palate, Congenital megaureter,... ORPHA:261344
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bifid scrotum, Hypoplastic labia minora, Small scrotum, Hypoplastic labia majora ORPHA:324540
German Syndrome
Ambiguous genitalia, Cryptorchidism, High palate ORPHA:2077
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroi... OMIM:101800
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Small for gestational age, Supernumerary nipple OMIM:617635
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Cryptorchidism, Micropenis OMIM:612447
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Narrow palate, Micropenis, Decreased testicular size OMIM:614222
Ablepharon-Macrostomia Syndrome
Hypoplastic labia majora, Anteriorly placed anus, Hypoplastic nipples, Thin skin, Ambiguous genit... OMIM:200110
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... OMIM:100100
Femoral-Facial Syndrome
Maternal diabetes, Cryptorchidism, Long penis, Cleft palate, Polycystic kidney dysplasia ORPHA:1988
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Failure to thrive, High palate, Hypospadias ORPHA:98791
Microform Holoprosencephaly
Hypoplasia of penis, Maternal diabetes, Hypothyroidism, Cleft palate, Ambiguous genitalia, Panhyp... ORPHA:280200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Cryptorchidism, Renal hypoplasia, Delayed puberty, Hypothyroidism OMIM:616817
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Pyloric stenosis, Obesity, Decreased fertility, Renal hypopl... ORPHA:3138
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Reduced radioactive iodine uptake, P... ORPHA:90674
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty OMIM:180870
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... OMIM:146510
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:228402
Rhyns Syndrome
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... OMIM:602152
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Renal hypoplasia, Abdominal obesity, Hypoplasia of the... OMIM:619321
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney OMIM:218350
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cleft pal... OMIM:220210
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Aminoaciduria, Diabetes mellitus OMIM:249270
Marshall-Smith Syndrome
Failure to thrive, Thin skin, Protruding tongue ORPHA:561
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Maternal diabetes, Ectopic kidney, Cryptorchidism, Abn... ORPHA:3027
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate ORPHA:314575
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Webbed neck ORPHA:2701
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Skin dimple, Submucous cleft hard palate, Hypogonadism ORPHA:178303
Suleiman-El-Hattab Syndrome
Blue nevus, Cryptorchidism, High palate, Webbed neck, Preauricular skin tag, Failure to thrive, H... OMIM:618950
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Small for gestational age, Cryptorchidism, High palate, Webbed neck, Vesicouretera... OMIM:609625
Dyskeratosis Congenita
Neoplasm of the pancreas, Macule, Esophageal stenosis, Aplasia/Hypoplasia of the skin, Hypermelan... ORPHA:1775
Noonan Syndrome 5
Nevus, Large for gestational age, Cryptorchidism, Multiple lentigines, Webbed neck, Cafe-au-lait ... OMIM:611553
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Lig4 Syndrome
Hypoplasia of penis, Malabsorption, Cryptorchidism, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, High, narrow palate, Failure to thrive, Decreased response to growth ho... ORPHA:485405
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Micropenis, Failure to thrive OMIM:607143
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Bifid uvula, Penoscrotal hypospadias, Hypos... OMIM:270400
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Cryptorchidism, Grade III vesicoureteral r... OMIM:619522
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Thin skin OMIM:166210
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pyloric stenosis, Prima... ORPHA:912
Alstrom Syndrome
Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... OMIM:203800
Ochoa Syndrome
Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Vesicoureteral r... ORPHA:2704
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Micropenis, Small scrotum, High palate ORPHA:98905
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Enlarged kidney... OMIM:618280
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Hydroureter, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased res... OMIM:604292
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Cleft pala... ORPHA:2075
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Dermoid cyst, Hypopituitarism, Median cleft palate ORPHA:1827
8P11.2 Deletion Syndrome
Preauricular pit, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Cryptorchidi... ORPHA:251066
Adams-Oliver Syndrome 1
Aplasia cutis congenita on trunk or limbs, Supernumerary nipple, Cleft palate, Aplasia cutis cong... OMIM:100300
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Melanocytic nevus, Linear nevus sebaceous, Hyperhidrosis, Uni... ORPHA:2874
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism OMIM:615419
Oculocerebrocutaneous Syndrome
Skin tags, Aplasia/Hypoplasia of the skin, Cryptorchidism, Hypopigmented skin patches, Preauricul... ORPHA:1647
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Tr... ORPHA:138
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Adult Syndrome
Absent nipple, Skin ulcer, Melanocytic nevus, Hypoplastic nipples, Thin skin, Breast hypoplasia ORPHA:978
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Sh... ORPHA:96182
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Failure to thrive ORPHA:88639
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Microphthalmia, Syndromic 5
Cryptorchidism, Micropenis, Cleft palate, Ectopic posterior pituitary OMIM:610125
Baralle-Macken Syndrome
Obesity OMIM:619255
Currarino Syndrome
Anal stenosis, Neurogenic bladder, Urinary incontinence, Septate vagina, Perianal abscess, Horses... OMIM:176450
Noonan Syndrome 8
Cryptorchidism, Failure to thrive, Webbed neck, Large for gestational age OMIM:615355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Rin2 Syndrome
Cryptorchidism, High palate, Hypergonadotropic hypogonadism, Premature ovarian insufficiency ORPHA:217335
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Decreased response to growth hormone stimulation test, Supernumerary nipple, Large... OMIM:213980
Triploidy
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, Macroglos... ORPHA:3376
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Narrow palate, Pollakisuria, High palate, Shawl scrotum OMIM:227330
Chromosome 3Pter-P25 Deletion Syndrome
Preauricular pit, Sacral dimple, Small for gestational age, Cryptorchidism, High palate, Anal atr... OMIM:613792
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal... OMIM:614527
Focal Dermal Hypoplasia
Macule, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous n... ORPHA:2092
Qazi-Markouizos Syndrome
Cryptorchidism, High, narrow palate ORPHA:3010
Acrodysostosis
Cryptorchidism, Irregular menstruation, Melanocytic nevus, Hypogonadism, Abnormality of female ex... ORPHA:950
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... ORPHA:293967
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Thin skin OMIM:201170
Noonan Syndrome 9
Cryptorchidism, Hydroureter, Webbed neck OMIM:616559
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Small for gestational age, Cryptorchidism, Long penis, Hypoplasia of the thymus, Thi... OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, High palate, Hyp... OMIM:617796
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Dermal atrophy, Breast aplasia, Thin skin ORPHA:90153
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti... OMIM:619004
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, High palate OMIM:620316
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
African Trypanosomiasis
Erythematous macule, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycl... ORPHA:3385
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Hypospadias, Hyperpigmented/hypopigmented macules, Cryptorchidism, Failure to thrive OMIM:620331
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin, Papule ORPHA:742
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism ORPHA:85322
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Anteri... OMIM:617159
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Aganglionic megacolon, Ep... ORPHA:3339
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Bent Bone Dysplasia Syndrome 2
Webbed neck, Micropenis, Shawl scrotum OMIM:620076
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Skin dimple, H... OMIM:609945
Narcolepsy 7
Obesity OMIM:614250
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, Hamartoma of tongue ORPHA:1338
Bresek Syndrome
Aganglionic megacolon, Cryptorchidism, Renal hypoplasia, Cleft palate, Vesicoureteral reflux, Dec... ORPHA:85284
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate ORPHA:3429
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonad... OMIM:614231
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hypergonadotropic hypogonadism, Cleft palate ORPHA:250999
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Noonan Syndrome 6
Cryptorchidism, Cafe-au-lait spot, Multiple lentigines, Webbed neck OMIM:613224
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3082
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Adult Syndrome
Absent nipple, Dermal atrophy, Hypoplastic nipples, Thin skin, Breast hypoplasia OMIM:103285
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias, Hypothyroidism, Cleft palate OMIM:603736
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Kbg Syndrome
Cryptorchidism, Cleft palate, Webbed neck ORPHA:2332
Hydrolethalus
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian tube morphology, Bi... ORPHA:2189
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity ORPHA:2928
Cowden Syndrome
Subcutaneous nodule, Hamartomatous polyposis, High palate, Abnormality of the uterus, Papule, Abn... ORPHA:201
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Diabetes mellitus, Hypospadias ORPHA:500159
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cafe-au-lait spot, High palate, Thin skin, Protruding tongue OMIM:617804
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias ORPHA:1194
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Intestinal malrotation, Ectopic kidney ORPHA:401935
Specc1L-Related Hypertelorism Syndrome
Preauricular pit, Ectopic kidney, Cryptorchidism, Shawl scrotum, Female pseudohermaphroditism ORPHA:1519
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis ORPHA:181
Osteoglosphonic Dysplasia
Cryptorchidism, Failure to thrive in infancy ORPHA:2645
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Failure to thri... OMIM:613803
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Cryptorchidism, High palate, Hypospadias OMIM:300004
Oculoskeletodental Syndrome
Small for gestational age, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, P... OMIM:618440
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum, High, narrow palate ORPHA:1968
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Peters Plus Syndrome
Preauricular pit, Intestinal fistula, Sacral dimple, Ureteral duplication, Hypospadias, Multicyst... ORPHA:709
Kapur-Toriello Syndrome
Intestinal malrotation, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Preauricular skin... OMIM:244300
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Emanuel Syndrome
Preauricular pit, Sacral dimple, Intestinal malrotation, Unilateral renal agenesis, Cryptorchidis... OMIM:609029
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Abnormality of the ureter, Cleft palate, Abnormal morphology of fema... ORPHA:2311
Tyshchenko Syndrome
Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow palate, Cleft palate, High palate OMIM:615102
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Cryptorchidism, High palate, Decreased body weight, Failure to thrive OMIM:617452
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Cleft palate ORPHA:1252
Johanson-Blizzard Syndrome
Anteriorly placed anus, Micropenis, Hypothyroidism, Aplasia cutis congenita of scalp, Hypospadias... OMIM:243800
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:615286
Emanuel Syndrome
Preauricular pit, Sacral dimple, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Cle... ORPHA:96170
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Clark-Baraitser Syndrome
Obesity OMIM:617752
Retinitis Pigmentosa 51
Obesity OMIM:613464
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis OMIM:619718
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, High palate, ... ORPHA:2510
Non-Distal Duplication 13Q
Cryptorchidism, High palate ORPHA:1702
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Ehlers-Danlos Syndrome, Periodontal Type, 1
Intestinal perforation, Atrophic scars, Thin skin, Hiatus hernia OMIM:130080
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Failure to thrive, Proximal renal tubular acidosis OMIM:615824
Renal Hypoplasia, Bilateral
Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chronic kidney dis... ORPHA:97362
Buratti-Harel Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala... OMIM:619314
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, High palate, Thin skin ORPHA:230851
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Dermal atrophy ORPHA:69735
Rafiq Syndrome
Truncal obesity, Obesity OMIM:614202
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Acute kidney injury, Pancreatic cysts, Stage 5 chronic kidney disease, Rena... OMIM:266920
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Cleft palate, Hypothyroidism ORPHA:254346
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Preauricular pit, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Vesicoureteral... OMIM:619951
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Obesity ORPHA:412035
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Cleft palate OMIM:300946
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia, Aplasia of the epiglottis, Horseshoe kidney OMIM:617088
Retinitis Pigmentosa
Obesity ORPHA:791
Baraitser-Winter Syndrome 1
Cryptorchidism, Micropenis, Failure to thrive OMIM:243310
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis, Small for gestational age OMIM:619847
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Cleft palate, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasi... OMIM:214110
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Abnormality of the ureter, Hypohidrosis, Bilateral cleft lip and palate, Hypogonadism ORPHA:3253
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Narrow palate, Micropenis, Slender build, Hydronephrosis ORPHA:364028
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty ORPHA:496790
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Hypohidrosis, Hypopla... OMIM:305100
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bicornuate uterus, En... OMIM:608978
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Failure to thrive, Homocystinuria, Methylmalonic aciduria OMIM:614857
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Urinary incontinence, Pyloric stenosis, Large for gestational age ORPHA:169189
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux, Inflammation of the large intestine, Failure to thrive, Thin skin OMIM:615895
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Arthrogryposis, Distal, Type 1A
Cryptorchidism, Webbed neck OMIM:108120
Elsahy-Waters Syndrome
Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High... OMIM:211380
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Hamartoma of tongue, Septate vagina, Esophageal diverticulum, Uterus didelphy... OMIM:617925
Ruvalcaba Syndrome
Hematuria, Cryptorchidism, Hypopigmented skin patches, Delayed puberty ORPHA:3121
Trisomy 8Q
Hypoplasia of penis, Cryptorchidism, Cleft palate, High palate, Displacement of the urethral meat... ORPHA:1752
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Delaye... ORPHA:2326
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, High palate ORPHA:1145
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Elevated circulating parathyroid hormone level, Hypospadias, Obesity ORPHA:439822
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Cryptorchidism, Congenital hypop... ORPHA:2323
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Sacral dimple, Cryptorchidism, High palate, Decreased body weight, Failure to thrive ORPHA:505237
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Dilated third ventricle, Hypogonadism, Micropenis, Failure to thrive ORPHA:500055
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi... ORPHA:264200
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Celiac... ORPHA:199299
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin, Delayed puberty ORPHA:90154
Restrictive Dermopathy 1
Ureteral duplication, Hypospadias, Adrenal hypoplasia, Submucous cleft hard palate, Thin skin, Sk... OMIM:275210
Schimke Immunoosseous Dysplasia
Macule, Renal insufficiency, Small for gestational age, Hypermelanotic macule, Proteinuria, Bilat... OMIM:242900
Juberg-Hayward Syndrome
Anteriorly placed anus, Decreased response to growth hormone stimulation test, Horseshoe kidney OMIM:216100
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Multiple ... ORPHA:1556
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Meier-Gorlin Syndrome 6
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:616835
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Failure to thrive, Renal insufficiency, Protruding tongue, Cryptorchidism, O... ORPHA:96147
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Furrowed tongue, High palate, Decreased body weight, Cholelithiasis, Micropenis, ... OMIM:300534
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, High palate, Micropenis OMIM:618929
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Smith-Kingsmore Syndrome
Cryptorchidism, Cafe-au-lait spot, Large for gestational age OMIM:616638
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Cryptorchidism, Naevus flammeus of the eyelid, Cleft palate, Webbed neck ORPHA:2215
Wolfram Syndrome 2
Diabetes mellitus, Oligomenorrhea, Primary amenorrhea OMIM:604928
Recombinant 8 Syndrome
Small scrotum, Cryptorchidism, Cleft palate, Hypoplastic male external genitalia, Abnormality of ... ORPHA:96167
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Skin dimple OMIM:608093
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, Small for gestational age, External genital hypoplas... ORPHA:97360
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, High, narrow palate, Hydronephrosis, Hypogonadism, High palate, Micropenis, Decre... OMIM:612513
Glass Syndrome
High palate, Thin skin, Cleft palate OMIM:612313
Acrofacial Dysostosis, Catania Type
Preauricular pit, Cryptorchidism, Hypospadias, Webbed neck ORPHA:1786
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Hypospadias, Intestinal malrotation, Webbed neck OMIM:618316
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Alg9-Cdg
Villous atrophy, Ureteral hypoplasia, Hydronephrosis, Bicornuate uterus, Hypoplasia of the ovary,... ORPHA:79328
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, 3-Methylglutaconic aciduria,... ORPHA:66634
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glos... ORPHA:861
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Cryptorchidism, Cleft palate, Webbed neck, Hydroneph... ORPHA:99776
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Desmosterolosis
Aplasia/Hypoplasia of the skin, Intestinal malrotation, Submucous cleft hard palate, Cleft palate... ORPHA:35107
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... OMIM:617466
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Cri-Du-Chat Syndrome
Small for gestational age, Hypospadias, Cryptorchidism, High palate, Preauricular skin tag, Bifid... OMIM:123450
Kleefstra Syndrome 1
Hypospadias, Protruding tongue, Cryptorchidism, Obesity, Macroglossia, Micropenis OMIM:610253
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... ORPHA:79100
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Cryptorchidism, Cleft palate, Failure to thrive, Bifid uvula OMIM:612938
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Alkuraya-Kucinskas Syndrome
Micropenis, Small scrotum, High palate, Webbed neck OMIM:617822
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Stuve-Wiedemann Syndrome 1
Smooth tongue, Milia, Thin skin, Hyperhidrosis OMIM:601559
Cockayne Syndrome Type 2
Male hypogonadism, Hypermelanotic macule, Cryptorchidism ORPHA:90322
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism OMIM:616789
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, High palate, Congenital hypothyroidism OMIM:617930
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test, Cystinuria OMIM:616224
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palat... OMIM:248700
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, T... OMIM:616541
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... ORPHA:2250
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Cryptorchidism, Hypopigmented skin patches, Lacrimal gland hypoplasia, Hyp... OMIM:613266
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, High palate ORPHA:139471
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Hydronephrosis ORPHA:531151
Dermatosparaxis Ehlers-Danlos Syndrome
Thin skin, Esophagitis, Hiatus hernia ORPHA:1901
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Cryptorchidism, Esophagitis, Webbed neck, Micropenis ORPHA:495818
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Anal stenosis, Hypospadias OMIM:601499
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Celiac disease, Stage... ORPHA:2044
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, External genital hypoplas... ORPHA:2658
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Cryp... OMIM:227650
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, High palate, Hypospadias, Decreased body weight OMIM:300260
Myopathy, Centronuclear, X-Linked
Cryptorchidism, High palate, Pyloric stenosis OMIM:310400
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Aplasia/Hypoplasia of the skin, Hypospadias, Sacral... ORPHA:2556
Meier-Gorlin Syndrome 5
Cryptorchidism, Micropenis, Submucous cleft hard palate, Failure to thrive OMIM:613805
Noonan Syndrome 12
Anteriorly placed anus, Decreased response to growth hormone stimulation test OMIM:618624
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horses... OMIM:600901
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis, Anal atresia... OMIM:264480
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Erythematous plaque, Decreased response to growth h... ORPHA:79323
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Micropenis, Diabetes insipidus OMIM:615465
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Mi... ORPHA:1307
Vascular Ehlers-Danlos Syndrome
Macule, Hypospadias, Cryptorchidism, High, narrow palate, Cystocele, Subcutaneous nodule, Cigaret... ORPHA:286
Microtriplication 11Q24.1
Obesity ORPHA:289522
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hyperinsuline... ORPHA:508
Carpenter Syndrome 2
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, High, narrow palate, Obesity, Nar... OMIM:614976
Recon Progeroid Syndrome
Thin skin OMIM:620370
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Blue nevus, Micropenis, Hydronephrosis, Duodenal atresia OMIM:617798
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Bachmann-Bupp Syndrome
Cryptorchidism, High palate, Large for gestational age OMIM:619075
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypermelanotic macule, Cryptorchidism, Hypoplastic nipples, Cafe-au-lait spot, Bifid uvula OMIM:618505
Shox-Related Short Stature
Obesity ORPHA:314795
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Abdominal obesity OMIM:301039
Flynn-Aird Syndrome
Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ulcer, Dermal atr... ORPHA:2047
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... ORPHA:2059
Carpenter Syndrome 1
Preauricular pit, Sacral dimple, Hydroureter, External genital hypoplasia, Precocious puberty, Cr... OMIM:201000
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction ORPHA:73246
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Cryptorchidism, Hypospadias ORPHA:494344
Toluene Embryopathy
Cryptorchidism, Hydronephrosis ORPHA:1920
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Absent scrotum OMIM:618479
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, High palate, Webbed neck ORPHA:1131
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita ORPHA:79133
Orofacial Cleft 15
Cryptorchidism, Bilateral cleft palate OMIM:616788
Autosomal Recessive Faciodigitogenital Syndrome
High palate, Shawl scrotum ORPHA:1974
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Narrow ... ORPHA:96169
Rubinstein-Taybi Syndrome 1
Hypospadias, Small for gestational age, Premature thelarche, Bilateral cryptorchidism, Cryptorchi... OMIM:180849
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Cleft palate, Anal atresia ORPHA:2008
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Cryptorchidism, Micropenis, High palate OMIM:614969
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:2028
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cryptorchidism, High palate ORPHA:3304
Meier-Gorlin Syndrome 4
Cryptorchidism, Failure to thrive, Breast hypoplasia OMIM:613804
Hypermobile Ehlers-Danlos Syndrome
Malabsorption, Abnormality of the menstrual cycle, Subcutaneous nodule, Cystocele, Decreased fert... ORPHA:285
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Cryptorchidism, Submucous cleft hard palate, Horseshoe kidney, Vesicoureteral reflux... OMIM:619103
Arterial Tortuosity Syndrome
High palate, Bifid uvula, Thin skin, Hiatus hernia OMIM:208050
Chromosome 18Q Deletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Failure to thrive in infancy,... OMIM:601808
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... ORPHA:2588
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Anal atresia, Narrow palate ORPHA:2063
Fg Syndrome Type 1
Sacral dimple, Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchi... ORPHA:93932
Lesch-Nyhan Syndrome
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria OMIM:300322
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Fanconi Anemia, Complementation Group P
Cryptorchidism, Cafe-au-lait spot, Pelvic kidney, Horseshoe kidney OMIM:613951
Crane-Heise Syndrome
Cryptorchidism, Hypoplasia of penis, Cleft palate ORPHA:1512
Eec Syndrome
Aplasia/Hypoplasia of the skin, Hypospadias, Decreased response to growth hormone stimulation tes... ORPHA:1896
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Hypospadias, Cryptorchidism, Megarectum, Vesicoureteral reflux, Microp... OMIM:301056
Rubinstein-Taybi Syndrome
Failure to thrive in infancy, Cryptorchidism, Atypical scarring of skin, High palate, Keloids ORPHA:783
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, P... ORPHA:96092
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Micropenis, High palate, Narrow palate OMIM:619435
Pudendal Neuralgia
Dyspareunia, Anal canal adenocarcinoma, Dysuria, Pollakisuria, Scrotal pain, Impotence ORPHA:60039
Seckel Syndrome 1
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy OMIM:210600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney, Cafe-au-lait spot ORPHA:166035
Noonan Syndrome 4
Ureteral duplication, Large for gestational age, Cryptorchidism, Webbed neck, Hydronephrosis OMIM:610733
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cle... ORPHA:2166
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Cryptorchidism, Webbed neck, Preauricular skin tag, Hydronephrosis ORPHA:568
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Thin skin, Esophagitis, Median cleft lip and palate ORPHA:3342
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Cleft palate ORPHA:994
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t... ORPHA:722
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephro... OMIM:136140
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Preauricular pit, Intestinal malrotation, Cryptorchidism, Cleft palate, Hydronephrosis ORPHA:457193
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Adrenal insufficiency, ... OMIM:300166
Macs Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Urethral stenosis, High palate, Decreased body we... OMIM:613075
Peters-Plus Syndrome
Preauricular pit, Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladd... OMIM:261540
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, High palate, Webbed ... ORPHA:1521
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Neuroendocrine neoplasm, Obesity ORPHA:404443
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Periarticular subcutaneous nodules, Decreased response to growth hormone stimulation test ORPHA:436174
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Epididymitis, Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:307200
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Baller-Gerold Syndrome
Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High palate, Dermal... OMIM:218600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, Protein-losi... OMIM:235255
Monosomy 18Q
Bilateral cryptorchidism, Hypothyroidism, High palate, Micropenis, Failure to thrive, Slender bui... ORPHA:1600
Autosomal Recessive Omodysplasia
Cryptorchidism ORPHA:93329
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:67045
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, High, nar... ORPHA:2554
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Protein... OMIM:618183
Ogden Syndrome
Cryptorchidism, Capillary malformation, High, narrow palate ORPHA:276432
Opitz Gbbb Syndrome
Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Congenital posteri... OMIM:300000
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, Atypical scarring of skin, Atrophic scars, High palate, Webbed neck OMIM:618000
C Syndrome
Cryptorchidism, Renal cortical cysts, High palate, Failure to thrive, Clitoral hypertrophy OMIM:211750
Fanconi Anemia, Complementation Group C
Hypopigmented macule, Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, ... OMIM:227645
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, High palate, Thin skin ORPHA:536467
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Limb-Mammary Syndrome
Absent nipple, Psoriasiform dermatitis, Cleft hard palate, Cleft palate, Multiple cafe-au-lait sp... ORPHA:69085
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Preauricular pit, Cryptorchidism, High palate OMIM:602471
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Failure to thrive, Hypospadias, Small for gestation... ORPHA:1596
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Decreased testicul... OMIM:300998
Arthrogryposis, Distal, Type 3
Cryptorchidism, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Pylo... ORPHA:261494
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Aganglionic megacolon, Failure to thrive in infancy, Annular pancreas,... ORPHA:798
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ... OMIM:617063
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Dilated third ventricle, High palate OMIM:619244
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Dermal atrophy, Hypermelanotic macule, Gonadal hypoplasia OMIM:278800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Nevus, Overweight, High, narrow palate, Short uvula, Obesity, Melanoc... OMIM:619475
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft palate, Primary amenorrhea, Hyp... OMIM:603457
8P23.1 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Obesity, Weight loss, High palate ORPHA:251071
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... OMIM:614083
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Dermal atrophy OMIM:610651
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplas... OMIM:130650
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Cog5-Cdg
Neurogenic bladder, Urinary incontinence, Cryptorchidism, High palate, Micropenis ORPHA:263487
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Oral leukoplakia, Thin skin OMIM:612199
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr... OMIM:269150
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Cryptorchidism, Male pseudoherma... ORPHA:847
Senior-Loken Syndrome 9
Obesity OMIM:616629
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Congenital localized absence of skin, Atrophic scars, Failure to thrive, Milia OMIM:226700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Small for gestational age, Hypospadias, Cryptorchidism, Urolithiasis, Hyperu... OMIM:300661
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis OMIM:263750
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Failure to t... OMIM:614052
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Rectal fistula, Cryptorchidism, Bilateral... ORPHA:49
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Adrenal hypoplasia, Protruding tongue, Cryptorchidism, High, narrow palate, Macroglo... OMIM:214100
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Subaortic Stenosis-Short Stature Syndrome
Obesity ORPHA:3191
Bloom Syndrome
Small for gestational age, Decreased fertility in females, Cryptorchidism, Spotty hypopigmentatio... OMIM:210900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Failure to thrive, High palate, Delayed puberty OMIM:600462
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Cleft palate, Renal cyst, ... OMIM:618454
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Epispadias, Cryptorchidism, Abnormality of the ureter, Abnormal morphol... ORPHA:289
Snakebite Envenomation
Hypopituitarism, Acute kidney injury, Localized skin lesion ORPHA:449285
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Hypermelanotic macule, Cryptorchidism, Hypohidrosis, Male hypog... ORPHA:90321
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Renal hypoplasia, Horseshoe kidney, Decrea... OMIM:609053
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Phimosis, Urethral stenosis, Spotty hypopigmentation, Dermal ... OMIM:173650
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Distal Duplication 5Q
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity OMIM:615980
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorchidism, Esopha... OMIM:227646
Fanconi Anemia
High palate, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadi... ORPHA:84
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Pyloric stenosis,... OMIM:615577
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Horseshoe kidney, Aplasia of the uterus, Nevus flammeus of the forehead ORPHA:3320
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Preauricular skin tag OMIM:612530
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Stiff Skin Syndrome
Subcutaneous nodule, Nephrolithiasis, Aplasia/Hypoplasia of the skin, Type II diabetes mellitus ORPHA:2833
Holoprosencephaly
Hypoplasia of penis, Median cleft lip and palate, Failure to thrive in infancy, Diabetes insipidu... ORPHA:2162
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita ORPHA:79402
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Unilateral renal agenesis, Ectopic kidney, Absence of renal corticomedullary... OMIM:617641
Kabuki Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Lip pit, Precocious puberty, Crypt... ORPHA:2322
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis, Nevus psiloliparus OMIM:613001
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:899
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Cleft soft palate, Cryptorchidism, Cleft palate, Micropenis OMIM:616331
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Alagille Syndrome
Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Delayed puberty, Failure to thrive ORPHA:52
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Esopha... OMIM:206900
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Mosaic Trisomy 8
Cryptorchidism, Hypopigmented skin patches, Cleft palate, Hydronephrosis, High palate, Vesicouret... ORPHA:96061
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Chronic pancrea... OMIM:307030
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hydronephrosis OMIM:620327
Noonan Syndrome With Multiple Lentigines
Hypospadias, Cryptorchidism, Subcutaneous nodule, Decreased fertility, Melanocytic nevus, Multipl... ORPHA:500
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of penis, Small scrotum OMIM:617667
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity OMIM:615630
Trisomy 18
Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Webbed neck, Abnormal ... ORPHA:3380
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... OMIM:602782
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... ORPHA:93325
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, High palate ORPHA:284160
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, High, narrow pa... OMIM:216550
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Po... ORPHA:464311
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Aplasia/Hypoplasia of the skin, Cachexia, Weight loss ORPHA:1979
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Bladder diverticulum, Molluscoid pseudotumors, Thin skin, Decreased urinary lysyl-pyridinoline-hy... OMIM:225400
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Takenouchi-Kosaki Syndrome
Hypospadias, Nevus, Unilateral renal agenesis, Cryptorchidism, Webbed neck, Hydronephrosis OMIM:616737
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism OMIM:224410
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Preauricular pit, Cryptorchidism, Micropenis, High palate OMIM:620224
Noonan Syndrome 14
Hyperhidrosis, Cryptorchidism, High, narrow palate, Webbed neck OMIM:619745
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Micropenis, High palate, Cleft palate OMIM:614230
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Megacystis, Mi... ORPHA:2241
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microglossia, Renal hypop... OMIM:607932
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Psoriasiform ... ORPHA:293978
Genitopatellar Syndrome
Anal stenosis, Small scrotum, Multicystic kidney dysplasia, Enlarged labia minora, Cryptorchidism... OMIM:606170
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Cryptorchidism, Cleft palate, Anteriorly placed anus, Clitoral hypoplasia, Webbed ... OMIM:616894
Perlman Syndrome
Distal ileal atresia, Renal hamartoma, Large for gestational age, Cryptorchidism, Pancreatic isle... OMIM:267000
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Polyuria, Recurrent pancreatitis, Thin skin, Type I diabetes mellitus,... OMIM:606721
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Small for gestational age, Unilateral renal agenesis,... ORPHA:464306
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Intestinal malrotation, Unilat... OMIM:620305
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteriorly placed anus, Cryptorchidism, Hypospadias, Cleft palate OMIM:217980
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Circumferential skin creases on extremi... OMIM:616734
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... ORPHA:488632
Isolated Biliary Atresia
Hypopituitarism, Small for gestational age, Dark yellow urine, Atretic gallbladder, Xanthelasma, ... ORPHA:30391
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Preauricular pit, Cryptorchidism, Cleft palate, Furrowed tongue, Hydronephrosis, Macroglossia, Hi... ORPHA:453499
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Vacterl With Hydrocephalus
Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Abnormal fallopian tube morphology... ORPHA:3412
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... ORPHA:177907
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Bladder diverticulum, High palate, Thin skin ORPHA:536545
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Ellis-Van Creveld Syndrome
Epispadias, Hypospadias, Cryptorchidism OMIM:225500
Cohen Syndrome
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow pala... ORPHA:193
Cardiofaciocutaneous Syndrome 4
Cafe-au-lait spot, Multiple lentigines, Decreased response to growth hormone stimulation test, Hy... OMIM:615280
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Obesity, Anteriorly placed anus, High palate, Vesicouretera... OMIM:618653
Laron Syndrome
Truncal obesity ORPHA:633
Ritscher-Schinzel Syndrome 3
Cryptorchidism OMIM:619135
Kindler Epidermolysis Bullosa
Urethral stricture, Aplasia/Hypoplasia of the skin, Phimosis, Esophageal stricture, Neoplasm of t... ORPHA:2908
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, Cryptorchidism, Anteriorly placed anus, High palate, Hypogonadism, Der... OMIM:268400
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity OMIM:300055
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Ritscher-Schinzel Syndrome 2
Cryptorchidism, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Small for gestational age, Cryptorchidism, Hypogonadism, Dermal ... ORPHA:221008
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, Labial hypoplasia, Annular pa... OMIM:147791
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Cryptorchidism, Horseshoe kidney, High palate, Congenital posterior urethral valve, ... OMIM:620083
Pitt-Hopkins Syndrome
Cryptorchidism, Micropenis, Sacral dimple, Supernumerary nipple OMIM:610954
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Micropenis, High palate, Decreased body weight OMIM:619005
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Sacral dimple, Hypospadias, Malabsorption, Cryptorchidism, Rec... ORPHA:235
Acrootoocular Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, High, narrow pa... ORPHA:2980
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hypopigmented skin pa... ORPHA:2896
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Anal atr... ORPHA:1807
Retinitis Pigmentosa 74
Obesity OMIM:616562
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Cleft palate OMIM:603671
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Cryptorchidism, Pyloric ... OMIM:235730
Meckel Syndrome 14
Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Opitz-Kaveggia Syndrome
Skin tags, Anal stenosis, Sacral dimple, Hypospadias, Intestinal malrotation, Cryptorchidism, Pyl... OMIM:305450
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:881
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Hypomelanotic macule, Hyperechogenic pancreas, Failure to t... OMIM:617052
Classical-Like Ehlers-Danlos Syndrome Type 2
Sacral dimple, Widened atrophic scar, Long uvula, Diabetes mellitus, Piezogenic pedal papules, Cr... ORPHA:536532
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Cryptorchidism, Urethral stenosis, Oral leukoplakia OMIM:613990
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age ORPHA:73272
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Failure to thrive, Panhypopituitarism, Decreased response to growth hormone stimu... OMIM:618922
Barber-Say Syndrome
Absent nipple, Cryptorchidism, Hypoplastic labia minora, Velopharyngeal insufficiency, Hypoplasti... OMIM:209885
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
7Q11.23 Microduplication Syndrome
Sacral dimple, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Obesity, Enuresis, Aplasia... ORPHA:96121
Osteogenesis Imperfecta, Type I
Thin skin OMIM:166200
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Cryptorchidism, Cleft palate, Pelvic kidney, Failure to thrive, Duodenal atresia OMIM:247200
Joubert Syndrome 8
Obesity OMIM:612291
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Cleft palate, Renal cyst, Lobulated tongue... OMIM:616300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Septate vagina, ... ORPHA:261537
Distal Deletion 3P
Preauricular pit, Sacral dimple, Cryptorchidism, Cleft palate, High palate ORPHA:1620
3Mc Syndrome 2
Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate OMIM:265050
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity ORPHA:3041
Nablus Mask-Like Facial Syndrome
Cryptorchidism, High palate, Hypoplastic nipples, Labial hypoplasia, Micropenis OMIM:608156
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimulation test, Duodenal atresia OMIM:617784
16P13.11 Microdeletion Syndrome
Preauricular skin tag, Cryptorchidism, Cleft palate ORPHA:261236
Xp22.13P22.2 Duplication Syndrome
Truncal obesity ORPHA:284180
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Small for gestational age, Cryptorchidism, Cleft palate, Renal cyst, High palate, Hy... OMIM:614866
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, Cryptorchidism, High, narrow palat... OMIM:122470
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Skin ulcer, Adrenal insuffic... ORPHA:231226
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism, Failure to thrive, Small for gestational age, Unilateral renal agenesis OMIM:620024
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Cleft palate OMIM:619123
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Horseshoe kidney,... OMIM:305000
Man1B1-Cdg
Truncal obesity ORPHA:397941
1Q21.1 Microdeletion Syndrome
Cryptorchidism, High palate, Vesicoureteral reflux, Failure to thrive, Ankyloglossia, Hydronephrosis ORPHA:250989
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... ORPHA:2152
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Cl... OMIM:192430
Adiposis Dolorosa
Obesity ORPHA:36397
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bilateral cryptorchidism, Hydrometrocolpos, Hyperhidrosis, Hypohidrosis, Nevus... OMIM:150230
Frontorhiny
Dermoid cyst, Cleft palate, Preauricular skin tag, Hypopituitarism, Bifid tongue, Diabetes insipidus ORPHA:391474
Gomez-Lopez-Hernandez Syndrome
High palate, Decreased response to growth hormone stimulation test OMIM:601853
Mody
Overweight, Obesity, Large for gestational age ORPHA:552
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Small pituitary gland, Decreased response to growth... OMIM:619476
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Obesity, Narrow palate, High palate, Nevus flammeus, Ankyloglossia OMIM:616078
Charge Syndrome
External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ... OMIM:214800
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Hamamy Syndrome
Hypoparathyroidism, Cryptorchidism, Preauricular skin tag, High palate OMIM:611174
Cerebellofaciodental Syndrome
Preauricular skin tag, Cryptorchidism OMIM:616202
Koolen-De Vries Syndrome Due To A Point Mutation
Numerous nevi, Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Numerous nevi, Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test,... ORPHA:363958
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Chordee, Supernumerary nipple OMIM:616728
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Dilatation of renal calices, Cleft palate, Webbed neck OMIM:614294
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Atypical scarring of skin ORPHA:1366
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Ectopic kidney, Cryptorchidism, Rectal prolapse, Narrow palate, Horsesh... OMIM:235510
Desbuquois Dysplasia 1
Obesity OMIM:251450
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Sacral dimple, Hypospadias, Epispadias, Cryptorch... ORPHA:3107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimulation test OMIM:147250
Acrocallosal Syndrome
Hypospadias, Protruding tongue, Cryptorchidism, Cleft palate, High palate, Rectovaginal fistula, ... OMIM:200990
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa... ORPHA:3047
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity ORPHA:69663
Cockayne Syndrome B
Anhidrosis, Renal insufficiency, Small for gestational age, Proteinuria, Cryptorchidism, Atypical... OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Cryptorchidism, High, narrow palate, Cleft palate, Webbed neck, Bifid uvula OMIM:309583
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Tooth Agenesis, Selective, 4
Palmoplantar hyperhidrosis, Thin skin, Hypohidrosis OMIM:150400
Mosaic Variegated Aneuploidy Syndrome 2
Epidermoid cyst, Small for gestational age, Decreased response to growth hormone stimulation test... OMIM:614114
Meckel Syndrome, Type 1
External genital hypoplasia, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Ambiguou... OMIM:249000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Cryptorchidism, Cafe-au-lait spot, High palate, Multiple lentigines, W... OMIM:607721
Chops Syndrome
Cryptorchidism, High, narrow palate, Obesity, Horseshoe kidney, Vesicoureteral reflux OMIM:616368
Kabuki Syndrome 1
Preauricular pit, Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia,... OMIM:147920
Hallermann-Streiff Syndrome
Cryptorchidism, High, narrow palate, Glossoptosis, Dermal atrophy, Hypothyroidism ORPHA:2108
Larsen Syndrome
Cryptorchidism, Cleft palate ORPHA:503
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Preauricu... OMIM:616682
Monosomy 9P
Hypospadias, Cryptorchidism, Cleft palate, High palate, Webbed neck, Ambiguous genitalia, Uretero... ORPHA:261112
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Obesity, Renal hypoplasia, Macrogl... OMIM:309580
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Ap... ORPHA:564
Noonan Syndrome 10
Cryptorchidism, Cafe-au-lait spot, High palate, Webbed neck OMIM:616564
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Wolf-Hirschhorn Syndrome
Preauricular pit, Sacral dimple, Hypospadias, Small for gestational age, Precocious puberty, Cryp... OMIM:194190
Pseudohypoparathyroidism, Type Ic
Obesity OMIM:612462
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98855
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... ORPHA:261552
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Nevus, Skin erosion, Esophageal stricture, Delayed puberty, At... ORPHA:89842
1P36 Deletion Syndrome
Macule, Hypoplasia of penis, Hypospadias, Cryptorchidism, Pyloric stenosis, Obesity, Renal cyst, ... ORPHA:1606
Self-Improving Dystrophic Epidermolysis Bullosa
Aplasia cutis congenita, Atrophic scars, Skin erosion, Milia ORPHA:79411
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Cockayne Syndrome A
Anhidrosis, Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Atypical sc... OMIM:216400
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Vesicoureteral reflux, Nephropathy, Hypothyroidi... ORPHA:116
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Skin ulcer, Adrenal insuffic... ORPHA:231214
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Hydronephrosis OMIM:300712
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elevated circula... ORPHA:94089
Laurin-Sandrow Syndrome
Cryptorchidism ORPHA:2378
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Pseudohypoparathyroidism, Type Ia
Obesity OMIM:103580
Au-Kline Syndrome
Failure to thrive, Sacral dimple, Supernumerary nipple, Cryptorchidism, Chronic kidney disease, C... OMIM:616580
Kbg Syndrome
Epispadias, Webbed neck, Cryptorchidism OMIM:148050
Mend Syndrome
Sacral dimple, Cryptorchidism, Spotty hypopigmentation, Cleft palate, High palate, Failure to thrive ORPHA:401973
Mend Syndrome
Sacral dimple, Cryptorchidism, Spotty hypopigmentation, High palate, Crossed fused renal ectopia,... OMIM:300960
Noonan Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Melanocytic nevus, High palate, Webbed neck ORPHA:648
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98853
Trisomy 8P
Sacral dimple, Cryptorchidism, Malrotation of small bowel, Annular pancreas, Cleft palate, Nephro... ORPHA:264450
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:506358
Hallermann-Streiff Syndrome
Small for gestational age, Cryptorchidism, High, narrow palate, Narrow palate, High palate, Derma... OMIM:234100
Noonan Syndrome 2
Cryptorchidism, Cafe-au-lait spot, High palate, Nevus OMIM:605275
Tarp Syndrome
Failure to thrive, Cryptorchidism, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenu... ORPHA:2886
Generalized Pustular Psoriasis
Overweight, Obesity ORPHA:247353
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Cryptorchidism, Pyloric stenosis, Delayed puberty, Cleft palate, Ulcerative c... OMIM:617137
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Sacral dimple, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis,... ORPHA:1507
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight OMIM:619229
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Hydronephrosis ORPHA:163979
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Short-segment aganglionic megacolon, Cryptorchidism, Ileus, Hypopigmented ... OMIM:609136
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Cryptorchidism, Skin ul... ORPHA:534
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Uterus didelphys... ORPHA:93271
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Intestinal malrotation OMIM:613834
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, High, narrow palate,... OMIM:163950
Congenital Analbuminemia
Small for gestational age, Obesity ORPHA:86816
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Small for gestational age, Intestinal malrotation, Esophageal varix, High palate, ... OMIM:613658
Distal Duplication 17Q
Vesicoureteral reflux, Cryptorchidism, High palate, Cleft palate ORPHA:3379
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Angelman Syndrome
Obesity OMIM:105830
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple ORPHA:477993
X-Linked Intellectual Disability, Nascimento Type
Preauricular pit, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis ORPHA:163956
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Small for gestational age, Protruding tongue, Cryptorchidism, High,... OMIM:612289
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis ORPHA:444072
Pycnodysostosis
Overweight, Decreased serum insulin-like growth factor 1, High palate, Decreased response to grow... ORPHA:763
White-Sutton Syndrome
Failure to thrive, Obesity OMIM:616364
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Cryptorchidism, Cafe-au-lait spot, Failure to thrive, Webbed neck OMIM:613563
Roberts Syndrome
Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Clitoral hype... ORPHA:3103
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula OMIM:618748
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Abnormal intestine morphology, Dermal atrophy, Papule ORPHA:525
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Nephrolithiasis, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, Nep... OMIM:268310
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:567
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... OMIM:276820
Achondroplasia
Obesity ORPHA:15
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d... OMIM:102500
C Syndrome
Sacral dimple, Multicystic kidney dysplasia, Failure to thrive in infancy, Female pseudohermaphro... ORPHA:1308
Codas Syndrome
Cryptorchidism, Rectovaginal fistula, Anal atresia OMIM:600373
Native American Myopathy
Cryptorchidism, Cleft palate, High palate, Submucous cleft soft palate, Bifid uvula ORPHA:168572
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Cryptorchidism, Cleft palate, High palate, Hypoplasia of the thymus, Failure to... OMIM:612541
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, High palat... OMIM:608612
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
2Q37 Microdeletion Syndrome
Obesity ORPHA:1001
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Vesicoureteral reflux, Renal cyst, Furrowed tongue, High palate, Mul... OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Anal atresia, Cleft palate, Hypoplastic male external genitalia OMIM:236670
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Duodenal atresia OMIM:618846
Double Outlet Left Ventricle
Cryptorchidism, Failure to thrive ORPHA:3427
Osteoglophonic Dysplasia
Hypospadias, Cryptorchidism, Chordee, High palate, Failure to thrive OMIM:166250
Neurofibromatosis Type 1
Macule, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Subcutaneous nod... ORPHA:636
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Decreased body weight OMIM:270450
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal malrotation, Renal ins... ORPHA:199
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity ORPHA:163681
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Faundes-Banka Syndrome
Premature thelarche, Cryptorchidism, Cleft palate, Delayed puberty, Failure to thrive OMIM:619376
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Abnormality of the urethra, Scarring alopecia of scalp... ORPHA:158684
Down Syndrome
Obesity ORPHA:870
Paternal Uniparental Disomy Of Chromosome 1
Obesity ORPHA:251004
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, High palate, Supernumerary nipple OMIM:613884
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Cryptorchidism, Cleft palate, High palate, Dermal atrophy ORPHA:221016
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... ORPHA:251393
Axenfeld-Rieger Syndrome, Type 1
Anal stenosis, Hypospadias, Decreased response to growth hormone stimulation test, Anal atresia OMIM:180500
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:619234
Warburg-Cinotti Syndrome
High palate, Thin skin OMIM:618175
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Cryptorchidism, Webbed neck OMIM:601321
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Cleft palate, Aminoaciduria, Organic aciduria, Galactosuria, Nevus flammeus of th... ORPHA:85276
Huriez Syndrome
Aplasia/Hypoplasia of the skin ORPHA:384
Ctcf-Related Neurodevelopmental Disorder
Sacral dimple, Small for gestational age, Phimosis, Cryptorchidism, Cleft palate, Hypoplastic lab... ORPHA:363611
Peripartum Cardiomyopathy
Obesity ORPHA:563
Robinow Syndrome, Autosomal Dominant 1
Sacral dimple, Cryptorchidism, Narrow palate, Hypoplastic labia majora, Macroglossia, Clitoral hy... OMIM:180700
Femoral-Facial Syndrome
Maternal diabetes, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Polycystic kidney dysp... OMIM:134780
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Dilated third ventricle, Aplasia of th... ORPHA:434179
Adams-Oliver Syndrome
Aplasia/Hypoplasia of the skin, Failure to thrive, Esophageal varix, Aplasia cutis congenita ORPHA:974
Wagro Syndrome
Obesity OMIM:612469
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Hi... ORPHA:466791
Noonan Syndrome 3
Cryptorchidism, High palate, Webbed neck OMIM:609942
Monosomy 13Q34
Obesity ORPHA:96168
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Wiedemann-Steiner Syndrome
Sacral dimple, Decreased response to growth hormone stimulation test, Dilatation of renal calices... ORPHA:319182
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Celiac disease... ORPHA:293987
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, High, narrow palate ORPHA:1101
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Pancreatic fibrosis, Decreased respon... ORPHA:699
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cleft palate, Cholelith... ORPHA:83617
Congenital Myopathy 13
Cryptorchidism, High palate, Cleft palate OMIM:255995
Angelman Syndrome
Obesity ORPHA:72
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Subcutaneous nodule, Bicarbonaturia, Prox... OMIM:309000
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal parotid gland morphology, Preauricular ... OMIM:154500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ma... ORPHA:444077
Branchiooculofacial Syndrome
Preauricular pit, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pylori... OMIM:113620
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Cleft palate, Adrenal gland dysgenesis, Abnormal vagina morphology, Hy... OMIM:236680
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Unilateral renal agenesis, Cryptorchidism, Macroglossia, High palate, Webbed neck,... ORPHA:261337
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Hypermelanotic macule, Decreased serum leptin, Weight loss, Pubertal develop... ORPHA:740
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Dermal atrophy, Fail... OMIM:610965
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic sweat glands, Hypoplastic pilosebaceous units OMIM:601345
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cigarette-paper scars, Cervical insufficiency, Molluscoid pseudotumors... OMIM:130050
Coffin-Siris Syndrome 1
Sacral dimple, Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, ... OMIM:135900
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to th... ORPHA:649
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... ORPHA:438213
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Hypospadias, Cryptorchidism, Delayed puberty, Decreased testicular size ORPHA:459070
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Secondary am... ORPHA:529962
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, High, narrow palate, Pineal cyst, Delayed puberty, Submucous cleft soft palate, S... OMIM:300967
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hemat... ORPHA:1855
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Intestinal perforation, Moderate albuminuria, Xerostomia, Ski... ORPHA:95455
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Intestinal malrotation ORPHA:1553
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
White-Sutton Syndrome
Obesity ORPHA:468678
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Mosaic Trisomy 20
Cryptorchidism, Cleft palate, Horseshoe kidney ORPHA:1724
Poland Syndrome
Diabetes mellitus, Hypospadias, Cryptorchidism, Renal hypoplasia, Ureterocele, Vesicoureteral reflux ORPHA:2911
Neutral Lipid Storage Disease With Ichthyosis
Obesity ORPHA:98907
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Pancreatic cysts, Cleft palate, Horseshoe kidney, Aplasia of the uterus, Ve... OMIM:274000
Witteveen-Kolk Syndrome
Unilateral cryptorchidism, Hypospadias, Decreased response to growth hormone stimulation test, Ph... OMIM:613406
Orofaciodigital Syndrome Xiv
Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Anterio... OMIM:615948
Dysbetalipoproteinemia
Obesity ORPHA:412
Xylt1-Cdg
Truncal obesity ORPHA:370930
Nodular Non-Suppurative Panniculitis
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Weight loss ORPHA:33577
Shwachman-Diamond Syndrome
Failure to thrive, Diabetes mellitus, Decreased response to growth hormone stimulation test, Fat ... ORPHA:811
Focal Dermal Hypoplasia
Ureteral duplication, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Focal dermal a... OMIM:305600
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias, Cleft palate ORPHA:93322
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism, Webbed neck OMIM:620025
Schneckenbecken Dysplasia
Cryptorchidism, Cleft palate ORPHA:3144
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... ORPHA:79480
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Few cafe-au-lait spots, Sacral dimple, Decreased response to growth hormone stimulation test, Cle... OMIM:619503
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Urinary incontinence, Bi... ORPHA:2729
Tetrasomy 9P
Absent gallbladder, Sacral dimple, Cryptorchidism, Cleft palate, Oligozoospermia, Hydronephrosis,... ORPHA:3310
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Pallister-Killian Syndrome
Small scrotum, Renal cyst, Anteriorly placed anus, Bifid uvula, Hypospadias, Cryptorchidism, Obes... OMIM:601803
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Renal hypoplasia, Hydronephrosis, Bicornuate uterus, Vesicoureteral r... ORPHA:2363
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cle... ORPHA:1662
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Oculoectodermal Syndrome
Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Pineal cyst, Preauricular skin ta... OMIM:600268
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity ORPHA:2637
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Small scrotum, Hydronephrosis, High palate, Bifid uvula OMIM:620330
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Dermal atrophy OMIM:248370
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Horseshoe kidney, B... OMIM:268300
Lysinuric Protein Intolerance
Proteinuria, Decreased response to growth hormone stimulation test, Glomerulonephritis, Ornithinu... ORPHA:470
Distal Deletion 12Q
Failure to thrive in infancy, Proportionate tall stature, Obesity ORPHA:96149
Gaisböck Syndrome
Overweight, Obesity ORPHA:90041
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity OMIM:301066
Simpson-Golabi-Behmel Syndrome, Type 1
Preauricular pit, Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Supernum... OMIM:312870
Neu-Laxova Syndrome 1
Cryptorchidism, Cleft palate, Bifid uterus OMIM:256520
Malignant Atrophic Papulosis
Intestinal fistula, Intestinal perforation, Weight loss, Dermal atrophy, Papule ORPHA:679
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the skin, Small for gestational age, Infertility ORPHA:2909
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Dysosteosclerosis
Aplasia/Hypoplasia of the skin ORPHA:1782
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Atrophic scars, Smooth tongue, Aplasia cutis congenita... ORPHA:79396
White-Kernohan Syndrome
Obesity OMIM:619426
Holoprosencephaly 7
Bilateral cleft palate, Cleft palate, Fusion of the left and right thalami, Unilateral cleft pala... OMIM:610828
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Dysuria, Skin erosion, Esophageal ... ORPHA:79404
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Trun... OMIM:259050
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Hypohidrosis, Pyelonephritis, B... OMIM:181270
Myhre Syndrome
Small for gestational age, Obesity OMIM:139210
Bloom Syndrome
Abdominal obesity, Small for gestational age ORPHA:125
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity OMIM:301072
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... ORPHA:79403
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Adnp Syndrome
Truncal obesity ORPHA:404448
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive OMIM:222700
Neutral Lipid Storage Myopathy
Obesity ORPHA:98908
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Aganglionic megacolon, Cryptorchidism, Rectal prolapse, High, narrow pa... OMIM:309800
Dermatomyositis
Aplasia/Hypoplasia of the skin, Gastrointestinal stroma tumor, Skin ulcer, Weight loss, Papule ORPHA:221
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Anal fissure, Glomerulonephritis, Chronic kidney disease... ORPHA:79408
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Obesity ORPHA:353281
Monosomy 22Q13.3
Obesity ORPHA:48652
Williams Syndrome
Failure to thrive in infancy, Obesity ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Failure to thrive, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Failure to thrive, Obesity ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal
Obesity OMIM:607872
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul... ORPHA:79318
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive OMIM:612474
Williams-Beuren Syndrome
Failure to thrive in infancy, Obesity OMIM:194050
Digeorge Syndrome
Obesity OMIM:188400

Histopathology

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

There is no histopathology data for Gnrh1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gnrh1.

No publications found that use IMPC mice or data for Gnrh1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gnrh1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gnrh1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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