Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inhibin beta-A
Synonyms:
activin beta-A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Inhba mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse axillary hair, Elevated... OMIM:300068
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Hypogonadism, Decreased testicular size, Cryptorchidism, Dee... ORPHA:261483
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Decreased serum testosterone concentration, Decreased testicular size, Hypogona... OMIM:300869
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Proptosis, Hype... OMIM:246200
Moynahan Syndrome
Hypogonadism, Alopecia, Sparse hair, Cachexia ORPHA:2574
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Agenesis of maxillary lateral incisor, Coarse hair OMIM:616390
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... OMIM:620501
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Abnormal testis mo... ORPHA:202
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... ORPHA:3044
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overg... ORPHA:528
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia OMIM:613857
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Small nail, Failure to thrive, Absence of secondary sex characteristics, Decre... ORPHA:163971
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Hypogonadism, Long eyelashes, Cr... ORPHA:3363
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Orofacial Cleft 15
Sparse eyebrow, High anterior hairline, Palate fistula, Sparse eyelashes, Bilateral cleft palate,... OMIM:616788
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ... OMIM:300845
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Sparse axillary hair, Hypogonadotro... OMIM:146110
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Re... ORPHA:90794
Diencephalic Syndrome
Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Abnormality of the hypothalamus-pitui... ORPHA:1672
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Ovarian Dysgenesis 4
Decreased body weight, Decreased serum estradiol, Elevated circulating follicle stimulating hormo... OMIM:616185
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Precocious ... ORPHA:769
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Parc Syndrome
Alopecia, Microretrognathia, Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Non-Acquired Isolated Growth Hormone Deficiency
Microphallus, Delayed puberty, Abdominal obesity, Sparse hair, Neonatal hypoglycemia, Anterior hy... ORPHA:631
Wilson-Turner Syndrome
Thick eyebrow, Cryptorchidism, Deeply set eye, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly ORPHA:1078
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism, Hypoglycemia ORPHA:2022
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
W Syndrome
Abnormality of the scalp hair, Upper lip pit, Broad uvula, Submucous cleft hard palate, Agenesis ... ORPHA:2804
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Leprechaunism
Clitoral hypertrophy, Facial hypertrichosis, Hyperinsulinemia, Decreased body weight, Hypertelori... ORPHA:508
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, P... OMIM:618625
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Tooth Agenesis, Selective, 3
Oligodontia of primary teeth, Abnormal hair morphology, Agenesis of permanent molar, Oligodontia,... OMIM:604625
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Dentin Dysplasia, Type I
Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Mcdonough Syndrome
Synophrys, Cachexia, Cryptorchidism, Hypertelorism ORPHA:2471
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Reduced antra... OMIM:618723
Bent Bone Dysplasia Syndrome 1
Hepatosplenomegaly, Hypertelorism, Clitoral hypertrophy, Hirsutism OMIM:614592
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... ORPHA:453533
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Micrognathia, Accessory oral frenulum, Agenesis of central incisor, Ma... OMIM:252100
Rubinstein-Taybi Syndrome 2
Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Intestina... OMIM:613684
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombo... ORPHA:96181
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Cleft mandible, Thin eyebrow, Tented upper lip vermilion, Ag... ORPHA:364577
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Abnormality of... ORPHA:2234
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Renpenning Syndrome
Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Decreased testicular size, Cachexia, Hypos... ORPHA:3242
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... ORPHA:243
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Transaldolase Deficiency
Clitoral hypertrophy, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thromboc... OMIM:606003
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Sparse pubic hair, Male hypogonadism, Primary amenorrhea, Decreased se... ORPHA:52901
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Deeply set eye, Delayed puberty, Micropenis OMIM:301900
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity, Hypertelorism, Deeply set eye OMIM:615984
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Fine hair, Cryptorchidism, Hyd... ORPHA:85201
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Small nail, Decreased testicular size, External genital hypoplasia, Nail dy... OMIM:610644
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Hypogonadism, Decreased testicular size, Long eyelashes, Cryptorchidism, D... OMIM:300882
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency, Oral-pharyngeal dysph... ORPHA:99772
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Aica-Ribosiduria
Clitoral hypertrophy, Fused labia minora ORPHA:250977
Warburg Micro Syndrome 1
Facial hypertrichosis, Failure to thrive, Hypertrichosis, External genital hypoplasia, Cryptorchi... OMIM:600118
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Filippi Syndrome
Frontal hirsutism, Hypertrichosis, Serrated incisors, Abnormal dental morphology, Microdontia, Dy... OMIM:272440
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficie... OMIM:308750
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Uncombable hair, Sparse hair ORPHA:1264
Bardet-Biedl Syndrome 11
Obesity, Polydactyly OMIM:615988
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Fine hair, Hypoglycemia, Long eyelashes, Labial hypoplasia, Hyperhidrosis... ORPHA:231137
Aica-Ribosiduria Due To Atic Deficiency
Clitoral hypertrophy, Fused labia minora, Elevated urinary 5-amino-4-imidazolecarboxamide-ribosid... OMIM:608688
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, Deeply set... ORPHA:127
Intellectual Disability, Birk-Barel Type
High, narrow palate, Highly arched eyebrow, Micrognathia, Open mouth, Tented upper lip vermilion,... ORPHA:166108
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Bifid scrotum, Supernumerary nipple, Fine hair, Failure to thrive, Sparse... ORPHA:217346
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism, Long eyelashes, Nephrolithiasis, Cystinuria ORPHA:163693
Björnstad Syndrome
Hypogonadism, Alopecia, Brittle hair ORPHA:123
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Failure to thrive, ... OMIM:617872
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Unilateral renal agenesis, Decreased serum testosterone concent... OMIM:308700
Chand Syndrome
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Curly hair, Bifid tongue, Agenesi... ORPHA:1401
Seckel Syndrome 9
Clitoral hypertrophy, Hypertrichosis, Agonadism, Ambiguous genitalia, Small for gestational age OMIM:616777
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Abnormal erythrocyte morphology,... ORPHA:2575
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Hypogonadism, Deeply set eye, Low posterior hairline, Abnormal hair pattern, Hypop... ORPHA:2983
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse p... OMIM:618419
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased testi... ORPHA:280679
Arthrogryposis, Distal, Type 12
High palate, Dental crowding, Agenesis of maxillary incisor OMIM:620545
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology, Torticollis OMIM:217150
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... ORPHA:347
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Bardet-Biedl Syndrome 14
Obesity, Polydactyly OMIM:615991
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Anal stenosis, Dental malocclusion, Delayed eruption of t... OMIM:211380
Myotonic Dystrophy 2
Insulin insensitivity, Frontal balding, Hypogonadism, Type II diabetes mellitus, Elevated circula... OMIM:602668
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus,... OMIM:214110
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Chung-Jansen Syndrome
Obesity, Thick eyebrow, Cryptorchidism, Deeply set eye, Hypertelorism, Synophrys OMIM:617991
Megalencephaly
Macroorchidism, Long penis, Truncal obesity, Deeply set eye ORPHA:2477
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Highly arched eyebrow, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, Ope... OMIM:617412
Pierpont Syndrome
High anterior hairline, Failure to thrive, Cryptorchidism, Deeply set eye, Decreased body weight,... OMIM:602342
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, Patchy alopecia, Cryptorchidism, Deeply set eye ORPHA:85279
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Bardet-Biedl Syndrome 13
Obesity, Polydactyly OMIM:615990
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Joubert Syndrome 37
Decreased testicular size, Obesity, Cryptorchidism, Deeply set eye, Hydronephrosis, Hypertelorism... OMIM:619185
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Hypothyroidism, Del... ORPHA:95496
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
External genital hypoplasia, Small for gestational age, Hyperhidrosis, Hypoglycemia ORPHA:231147
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Splenomegaly, Ty... OMIM:269700
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Ambiguous genitalia, male, Micropenis, P... OMIM:264600
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Testicular neoplasm, Anemia, Ovarian neoplasm, Neoplasm of the pancreas ORPHA:83469
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
Seckel Syndrome 5
Clitoral hypertrophy, Hypospadias, Cryptorchidism OMIM:613823
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Deeply set eye OMIM:618512
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormal testis morpholog... ORPHA:317
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Sparse pubic hair, Failure to thrive, Breast hypoplasia, Hyp... OMIM:613803
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hydronephrosis, Hypertelorism, Sparse hair, Hypospadias OMIM:616449
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Decreased body weight, Hyperhidrosis, Neonatal hypoglycemia, Small for gestational ... ORPHA:231140
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Pierpont Syndrome
High anterior hairline, Cryptorchidism, Deeply set eye, Hypertelorism, Small for gestational age ORPHA:487825
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Deeply set eye, Micropenis, Sparse hair, Small for gestational age OMIM:610756
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Woolly Hair Nevus
Congenital posterior occipital alopecia, Precocious puberty, Fine hair, Woolly scalp hair, Curly ... ORPHA:79414
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp... ORPHA:2930
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Insulin re... ORPHA:813
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality... ORPHA:2183
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Pol... OMIM:608594
Duplication Of Urethra
Urinary incontinence, Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Anuria, Dysuria, Rec... ORPHA:237
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Alazami Syndrome
Decreased body weight, Retractile testis, Deeply set eye OMIM:615071
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Bachmann-Bupp Syndrome
Small nail, Hypoglycemia, Large for gestational age, Cryptorchidism, Deeply set eye, Sparse eyela... OMIM:619075
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Gand Syndrome
Sparse hair, Hypertelorism, Deeply set eye OMIM:615074
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Failure to thrive, Deeply set eye OMIM:300934
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Horseshoe kidney, Nail dystrophy, Deeply set eye, Low posterior hairline, Hi... OMIM:300860
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Deeply set eye, Hypoplasia of penis ORPHA:2849
Zellweger Syndrome
Clitoral hypertrophy, Multicystic kidney dysplasia, Failure to thrive, Primary adrenal insufficie... ORPHA:912
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Generalized microdontia, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Horizontal eyebrow, Failure to thrive, Decreased response to growth ho... OMIM:609757
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Extramedullary hematopoiesis, Hepatosplenomegaly, Hirsutism, Hypertelorism ORPHA:313855
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Lessel-Kubisch Syndrome
Renal hypoplasia, Sparse pubic hair, Premature graying of hair, Hypogonadism, Renal insufficiency OMIM:618681
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Deeply set eye, Low posterior hairline, Thick hair, Synophrys ORPHA:2429
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Forsythe-Wakeling Syndrome
Decreased body weight, Nephrotic syndrome, Thrombocytopenia, Deeply set eye OMIM:613606
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Long eyelashes, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft pa... OMIM:615502
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Birk-Barel Syndrome
Bifid uvula, Highly arched eyebrow, Microretrognathia, Long eyelashes, Tented upper lip vermilion... OMIM:612292
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormality of the ureter, Type II diabetes mellitus,... ORPHA:1133
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo... OMIM:616113
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias, Hypotelorism, Deeply set eye ORPHA:276422
Oculocerebrofacial Syndrome, Kaufman Type
Thin eyebrow, Clitoral hypertrophy, Absent eyebrow, Failure to thrive ORPHA:2707
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Decreased body mass index, Failure to thrive, Abnormality of the hairline, Sparse... ORPHA:370079
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Meier-Gorlin Syndrome 2
Clitoral hypertrophy, Failure to thrive, Breast hypoplasia, Hypoplastic labia majora, Labial hypo... OMIM:613800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Fine hair, Recurrent hypoglycemia, Cryptorchidism, Hypotelorism, Hypothyroidism... OMIM:616817
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Failure to thrive, Horseshoe kidney, Thin eyebrow, Long eyelashes, Cryptorchidism, Deeply set eye... ORPHA:502434
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Hypoglycemia, Hypoplastic fingernail, Abnormal scrotum morphology, C... ORPHA:397590
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Failure to thrive, Hypoglycemia OMIM:610090
8P23.1 Duplication Syndrome
Highly arched eyebrow, Adrenal insufficiency, Deeply set eye, Hydronephrosis, Hypertelorism ORPHA:251076
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl... ORPHA:2047
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Hawkinsinuria
Failure to thrive, Fine hair, Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria, Sparse hair, 4-hyd... ORPHA:2118
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Sparse hair, Unilateral cleft lip, Sparse lateral eyebrow, Thin eyebrow, Mic... ORPHA:1787
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
Riboflavin Transporter Deficiency
Hypogonadism, Cachexia, Diabetes insipidus ORPHA:97229
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Fanconi Anemia, Complementation Group S
Failure to thrive, Long eyelashes, Ovarian carcinoma, Low anterior hairline, Hypertelorism, Anemi... OMIM:617883
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Hypertrichosis, High palate, Dysphagia, Cleft ... OMIM:201550
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Bencze Syndrome
Open bite, Extension of hair growth on temples to lateral eyebrow, Submucous cleft hard palate ORPHA:1241
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Short foot, Tapered finger OMIM:309585
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus ORPHA:2301
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Cryptorchidism, Hyp... OMIM:616541
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Intellectual Developmental Disorder, X-Linked 108
High anterior hairline, Overweight, Deeply set eye OMIM:301024
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Seckel Syndrome 1
Clitoral hypertrophy, Pancytopenia, Hypospadias, Cryptorchidism OMIM:210600
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia, Hypergonadotropic hypogonadism ORPHA:298
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, ... ORPHA:3306
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity, Genu valgum ORPHA:436141
Developmental And Epileptic Encephalopathy 89
Highly arched eyebrow, Clitoral hypertrophy, Sparse eyebrow, Hypoplastic labia majora, Hypertelor... OMIM:619124
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Curly hair, Hypertelorism OMIM:616638
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Thin eyebrow, Cryptorchidism, Deeply set eye, Small for gestational age OMIM:617635
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Panhypopituitarism, Decreased testicular size, Tiger... OMIM:300953
Freeman-Sheldon Syndrome
Hypertelorism, Cryptorchidism, Failure to thrive, Deeply set eye ORPHA:2053
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Rippling Muscle Disease 2
Calf muscle hypertrophy, Skeletal muscle hypertrophy OMIM:606072
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Sparse hair, Secondary amenorrhea, Hyper... OMIM:268020
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse scalp hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypergonadotrop... ORPHA:2850
Isolated Cleft Lip
Velopharyngeal insufficiency, Macrodontia, Supernumerary maxillary incisor, Hypodontia, Bilateral... ORPHA:199302
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Frontal balding, Hypogonadism, Decreased testicular size, External genital hypoplasia, Deeply set... ORPHA:3041
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, O... ORPHA:91355
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Everted lower lip vermilion,... ORPHA:1193
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis, Deeply set eye OMIM:141300
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight lo... ORPHA:100083
Zimmermann-Laband Syndrome
Bifid uvula, Facial hypertrichosis, Long eyelashes, Micrognathia, Anterior open-bite malocclusion... ORPHA:3473
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Retrognathia, Downturned corners of mouth, Cleft soft palate, Narro... OMIM:620107
Weaver Syndrome
Fine hair, Abnormal fingernail morphology, Cryptorchidism, Hypoplastic toenails, Deep-set nails, ... ORPHA:3447
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Anemia ORPHA:79402
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67046
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Increased level of galactitol in urine, Hepatosplenomegaly, Hype... ORPHA:79237
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Conical incisor, E... OMIM:614564
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Failure to thrive, Cryptorchidism, Hydronephrosis, Adrenal h... OMIM:214100
Aredyld
Generalized hypotrichosis OMIM:207780
Solitary Fibrous Tumor
Uterine neoplasm, Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Pros... ORPHA:2126
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Hypogonad... OMIM:617575
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Small nail, Failure to thrive, Hepatosplenomegaly, Cryptorchidism, Splenome... OMIM:614866
Classic Galactosemia
Hypoglycemia, Cryptorchidism, Abnormal erythrocyte enzyme concentration or activity, Decreased fe... ORPHA:79239
1Q41Q42 Microdeletion Syndrome
Small nail, Cryptorchidism, Hypotelorism, Deeply set eye, Hyposegmentation of neutrophil nuclei, ... ORPHA:250999
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Cryptorchidism, Fine hair OMIM:300406
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Sparse eyebrow, Failure to thrive, Hypoplastic labia majora, Hypertelorism,... OMIM:244450
Roberts Syndrome
Clitoral hypertrophy, Long penis, Proptosis, Cryptorchidism, Thrombocytopenia, Hypertelorism, Spa... ORPHA:3103
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, Cryptorchidism, Hypertelorism, Micropenis, Sparse hair, Hypospadias ORPHA:2872
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Deeply set eye, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndr... OMIM:619428
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Proptosis, Breast aplasia, Thin eyebrow, Vesicoureteral reflux, Cryptorchid... OMIM:617063
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea ORPHA:2975
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Hypertelorism, Sparse lateral eyebrow, Deeply set eye ORPHA:261120
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Obesity, Abnormal hair pattern, Cachexia, Hyperhidrosis,... ORPHA:85293
Mirage Syndrome
Microphallus, Hypoglycemia, Decreased testicular size, Lymphopenia, Leukopenia, Adrenal insuffici... OMIM:617053
Holoprosencephaly 9
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ... OMIM:610829
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of h... ORPHA:2221
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Obesity, Short foot OMIM:300577
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Sparse body hair, Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:181
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, A... ORPHA:1809
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Failure to thrive, Cryptorchidism, Hirsutism, Deeply set eye, Small for gesta... OMIM:214150
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Polycystic ovaries, Truncal obesity, Hypertelorism, Macroorchidism, Spars... ORPHA:284180
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate, Synophrys OMIM:605282
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss ORPHA:1979
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Ear-Patella-Short Stature Syndrome
Clitoral hypertrophy, Failure to thrive, Breast aplasia, Hypoplastic labia minora, Cryptorchidism... ORPHA:2554
Tetrasomy 12P
Sparse eyebrow, Cachexia, Hypohidrosis, Hypertelorism, Sparse hair ORPHA:884
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Warburg Micro Syndrome 4
Small scrotum, Decreased testicular size, Cryptorchidism, Deeply set eye, Low anterior hairline, ... OMIM:615663
Bardet-Biedl Syndrome 10
Obesity, Polydactyly OMIM:615987
Intellectual Developmental Disorder, Autosomal Recessive 45
Highly arched eyebrow, Thick eyebrow, Deeply set eye, Hypertelorism, Synophrys OMIM:615979
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Deeply set eye ORPHA:140976
C Syndrome
Clitoral hypertrophy, Renal cortical cysts, Cryptorchidism, Failure to thrive OMIM:211750
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, High anterior hairline, Sparse scalp hair OMIM:620062
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Low posterior hairline, Esophageal a... OMIM:618779
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Cryptorchidism, Hypoglycemia OMIM:618958
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Deeply set eye OMIM:619058
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Cryptorchidism, Deeply set eye OMIM:618504
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Microretrognathia, Cleft mandible, Micrognathia, Narrow mouth, Aplasia of the epiglo... OMIM:268305
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Failure to thrive, Slender build, Deeply set eye, Sparse axillary hair, Sparse facial hair, Small... OMIM:608154
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Clitoral hypertrophy, Ambiguous genitalia, Failure to thrive ORPHA:543470
Craniofrontonasal Dysplasia
Ridged fingernail, Low posterior hairline, Shawl scrotum, Hypertelorism, Abnormality of hair text... ORPHA:1520
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Distal lower limb muscle weakne... ORPHA:459033
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating... OMIM:615962
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Neutropenia, Sparse hair, Hypospadias, Small for gestational age OMIM:618253
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Failure to thrive, Breast hypoplasia, Long eyelashes, Cryptorchidism, Hypop... OMIM:224690
Mody
Abnormal circulating insulin concentration, Nephropathy, Abnormal oral glucose tolerance, Pancrea... ORPHA:552
Cdkl5-Deficiency Disorder
Deeply set eye, Synophrys ORPHA:505652
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss OMIM:612075
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Deeply set eye, Low anterior hairline, Hypothyroidism, ... OMIM:617796
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohypoparathyroidism, Deepl... ORPHA:464288
Christianson Syndrome
Cachexia, Thick eyebrow, Deeply set eye ORPHA:85278
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Small nail, Persistence of hemoglobin F, Exoc... OMIM:617052
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity, Deeply set eye OMIM:300471
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Failure to thrive in infancy, Type II diabetes mellitus, Deeply set eye, Chordee, Dela... OMIM:618891
Tonne-Kalscheuer Syndrome
Small nail, Fine hair, Decreased testicular size, Cryptorchidism, Hypotelorism, Concave nail, Hyp... OMIM:300978
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Shox-Related Short Stature
Obesity, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb undergrowth, Short... ORPHA:314795
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... OMIM:615926
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Obesity ORPHA:99976
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye OMIM:614113
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Delayed puberty, Truncal obesity... ORPHA:633
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Hypoglycemia, Failure to thrive, Abnormal female external g... ORPHA:90790
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Septate vagina, Crossed fused renal ectopia, Vesicoureteral re... OMIM:300707
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Obesity, Deeply set eye, Shawl scrotum, Micropenis OMIM:620439
Bone Marrow Failure Syndrome 5
Hypogonadism, Nail dystrophy, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular atr... OMIM:618165
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Sulfite Oxidase Deficiency, Isolated
Fine hair, Sulfocysteinuria, Decreased urinary sulfate, Deeply set eye, Increased urinary sulfite... OMIM:272300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Addison Disease
Adrenal calcification, Weight loss, Hypoparathyroidism, Renal salt wasting, Premature ovarian ins... ORPHA:85138
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Anemia, Bone-marrow foam cells ORPHA:75233
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism, Low posterior hairline, Curly hair, Long eyebro... OMIM:613224
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, High anterior hairline, Horseshoe kidney, Deeply set eye, Endometriosi... OMIM:613680
Periventricular Nodular Heterotopia 7
Proptosis, Failure to thrive, Cryptorchidism, Deeply set eye, Hypertelorism OMIM:617201
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Micrognathia, Sparse hair, Self-injurious behavior, Sparse eyebrow, Long eyelashes... OMIM:619841
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, L... OMIM:606407
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Abnormality of the ureter, Testicular semi... OMIM:180860
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Low anterior hairline, Low pos... ORPHA:73272
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...