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Gene: Inhba MGI:96570

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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:
inhibin beta-A
Synonyms:
activin beta-A

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 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
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Small for gesta... OMIM:262190
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Sparse axillary hair, Absent facial hair, Elevated circulating l... OMIM:300068
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... OMIM:612964
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Deeply set eye, Sparse body hair, Truncal obesity, Decreased testicular size, ... ORPHA:261483
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Micropenis, Woolly scalp hair, Decreased t... OMIM:601217
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Tricho-Dento-Osseous Syndrome
Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Microdontia, Widely spaced teeth, ... ORPHA:3352
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea,... OMIM:146110
Donohue Syndrome
Nail dysplasia, Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia,... OMIM:246200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Alopecia, Decreased circulating cortisol level, Premature thelarche,... ORPHA:90795
Moynahan Syndrome
Alopecia, Cachexia, Sparse hair, Hypogonadism ORPHA:2574
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Sm... OMIM:300869
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Sparse body hair, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding OMIM:616390
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Alopecia, Sparse hair... OMIM:275400
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Deeply set eye, Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulati... ORPHA:3044
Crandall Syndrome
Pili torti, Hypoplasia of penis, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of ... ORPHA:202
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertrichosis, L... ORPHA:528
Mental Retardation Syndrome, Belgian Type
Hypergonadotropic hypogonadism, Deeply set eye, Eunuchoid habitus, Diabetes mellitus OMIM:249599
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Orofacial Cleft 15
Sparse eyebrow, Sparse eyelashes, Agenesis of lateral incisor, Bilateral cleft palate, Palate fis... OMIM:616788
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... OMIM:400044
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Hy... ORPHA:163971
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
46,Xx Sex Reversal 4
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis OMIM:617480
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Pallister W Syndrome
Agenesis of central incisor, Frontal upsweep of hair, Broad uvula, Agenesis of maxillary central ... OMIM:311450
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Diencephalic Syndrome
Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituitary axis, Long penis, Hype... ORPHA:1672
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... OMIM:618187
Ovarian Dysgenesis 4
Decreased body weight, Elevated circulating follicle stimulating hormone level, Primary amenorrhe... OMIM:616185
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Rabson-Mendenhall Syndrome
Hypertrichosis, Long penis, Clitoral hypertrophy, Precocious puberty, Hypothyroidism, Fasting hyp... ORPHA:769
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Dystrophic... OMIM:226440
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Parc Syndrome
Microretrognathia, Absent eyebrow, Cleft palate, Alopecia, Absent eyelashes OMIM:600331
Bent Bone Dysplasia Syndrome 1
Hirsutism, Hypertelorism, Clitoral hypertrophy, Hepatosplenomegaly OMIM:614592
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Wilson-Turner Syndrome
Deeply set eye, Thick eyebrow, Hypogonadotropic hypogonadism, Truncal obesity, Cryptorchidism ORPHA:3459
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Hypogonadism OMIM:616113
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Hypertelorism, Cryptorchidism, Decreased serum testosteron... OMIM:305400
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Cleft Velum
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate, Oral-pharyngeal dysph... ORPHA:99772
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Leprechaunism
Hypertrichosis, Hyperinsulinemia, Facial hypertrichosis, Increased circulating renin level, Long ... ORPHA:508
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Abnormality of the scalp hair, Upper lip pit,... ORPHA:2804
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy OMIM:264270
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Hypothyroidism, Absent eyelashes, Male hypogonadism, Nail dystrophy,... OMIM:618625
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
49,Xxxyy Syndrome
Abnormality of the testis size, Hypertelorism, External genital hypoplasia, Decreased serum testo... ORPHA:261534
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... ORPHA:432
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Abnormal hair morphology, Agenesis of per... OMIM:604625
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Abnormality of seconda... ORPHA:759
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Mcdonough Syndrome
Cachexia, Cryptorchidism, Hypertelorism, Synophrys ORPHA:2471
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Auriculocondylar Syndrome 3
Glossoptosis, Micrognathia, Retrognathia, Bifid uvula OMIM:615706
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... ORPHA:2234
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... ORPHA:364577
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Malar flattening... OMIM:252100
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Hypospadias, Thin eyebrow, Cachexia, Decreased testicula... ORPHA:3242
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Sparse pu... ORPHA:243
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... ORPHA:96181
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... ORPHA:52901
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Sparse hair ORPHA:1174
Transaldolase Deficiency
Failure to thrive, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Clitoral hypertro... OMIM:606003
Borjeson-Forssman-Lehmann Syndrome
Deeply set eye, Micropenis, Delayed puberty, Hypoplasia of the prostate, Obesity, Cryptorchidism OMIM:301900
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Bardet-Biedl Syndrome 7
Obesity, Hypertelorism, Deeply set eye, Hypogonadism OMIM:615984
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Alopecia, Streak ovary OMIM:241090
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Impotence, Central adrenal insufficiency, Decreased fertility in... ORPHA:91349
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Hyp... OMIM:300148
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Primary adrenal insufficiency, Pancytopenia, Hypogonadism OMIM:617872
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... ORPHA:754
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Alopecia,... ORPHA:453533
Cornelia De Lange Syndrome 5
Hirsutism, Deeply set eye, Hypertelorism, Low anterior hairline, Micropenis, Truncal obesity, Lon... OMIM:300882
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Genitopatellar Syndrome
Sparse scalp hair, Hypertelorism, Multicystic kidney dysplasia, Clitoral hypertrophy, Fine hair, ... ORPHA:85201
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Warburg Micro Syndrome 1
Failure to thrive, Hypertrichosis, Deeply set eye, External genital hypoplasia, Facial hypertrich... OMIM:600118
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Bangstad Syndrome
Hyperinsulinemia, Deeply set eye, Increased circulating cortisol level, Abnormality of the parath... ORPHA:1227
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Velopharyngeal insufficiency, Taurodontia, Cleft palate... ORPHA:2751
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Aica-Ribosiduria
Clitoral hypertrophy, Fused labia minora ORPHA:250977
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Sparse hair, Reduced terminal:vellus ratio OMIM:601553
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar hyperhidrosis, External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genita... OMIM:610644
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Borjeson-Forssman-Lehmann Syndrome
Deeply set eye, Thick eyebrow, Hypoplasia of penis, Sparse hair, Truncal obesity, Decreased testi... ORPHA:127
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Filippi Syndrome
Hypertrichosis, Sparse hair, Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Fron... OMIM:272440
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Sparse hair, Abnormality of the dentition, Oligodontia, Uncombable hair ORPHA:1264
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... ORPHA:2891
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft har... ORPHA:2521
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Labial hypoplasia, Small for gestational age, Hypoglycemia, Long eyelashes, Fine hair, High anter... ORPHA:231137
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia ORPHA:2016
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Failure to thrive, Sparse hair, Supernumerary nipple, Bifid scrotum, Hypospadias,... ORPHA:217346
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Knee flexion contra... OMIM:602484
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Sparse eyebrow, Small for gestational age, Unilateral renal agenesis, E... OMIM:618419
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Cystinuria, Hypoglycemia, Long eyelashes, Hypogonadism ORPHA:163693
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Chand Syndrome
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Commissur... ORPHA:1401
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast... ORPHA:2228
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Deeply set eye, Nephrotic syndrome, Folate-unresponsive megaloblastic anemi... ORPHA:2575
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Deeply set eye, Decreased response to growth hormone stimulation test,... ORPHA:280679
Disorder Of Sex Development-Intellectual Disability Syndrome
Deeply set eye, Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Synophrys, Hypogonadis... ORPHA:2983
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... ORPHA:3000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... ORPHA:2232
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Malar flattening OMIM:300850
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Megalencephaly
Deeply set eye, Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Seckel Syndrome 5
Cryptorchidism, Clitoral hypertrophy OMIM:613823
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Deeply set eye, Sparse hair, Alopecia OMIM:617763
Seckel Syndrome 9
Hypertrichosis, Small for gestational age, Agonadism, Ambiguous genitalia, Clitoral hypertrophy OMIM:616777
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Myotonic Dystrophy 2
Type II diabetes mellitus, Frontal balding, Oligospermia, Insulin insensitivity, Hypogonadism, El... OMIM:602668
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia, Sparse hair OMIM:272980
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Uni... OMIM:308750
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dys... OMIM:214110
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Broad philtrum, Dysphagia, Tented upper lip ve... ORPHA:166108
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... OMIM:229070
Rippling Muscle Disease 2
Abnormal skeletal muscle morphology, Skeletal muscle hypertrophy OMIM:606072
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Sparse hair, Small for gestational age, Micropenis, Small scrotum OMIM:610756
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Deeply set eye, Decreased testicular size, Patchy alopecia ORPHA:85279
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Thick eyebrow, Supernumerary tooth, Malar flattening, Impacted ... OMIM:211380
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Pierpont Syndrome
Failure to thrive, Deeply set eye, Hypertelorism, Decreased body weight, Micropenis, Cryptorchidi... OMIM:602342
Joubert Syndrome 37
Deeply set eye, Hypertelorism, Sparse hair, Micropenis, Decreased testicular size, Hydronephrosis... OMIM:619185
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick eyebrow, Supernumerary tooth, Brittle hair, Thin vermilion border, Bifid uvula... OMIM:617412
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Hypertelorism, Splenomegaly, Hepatosplenomegaly, Renal cyst, Clitoral hypertro... OMIM:614866
Meier-Gorlin Syndrome 7
Decreased body weight, Micropenis, Hypospadias, Thin eyebrow, Urethral stricture, Proptosis, Clit... OMIM:617063
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, External genital hypoplasia, Hyperhidrosis, Small for gestational age ORPHA:231147
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary a... ORPHA:95496
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Elevated h... OMIM:269700
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Abnormal external genitalia, Small for gestational age, Hypoglycemia, Neon... ORPHA:231140
Pierpont Syndrome
Deeply set eye, Hypertelorism, Small for gestational age, Cryptorchidism, High anterior hairline ORPHA:487825
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Aica-Ribosuria Due To Atic Deficiency
Clitoral hypertrophy, Fused labia minora OMIM:608688
Pseudovaginal Perineoscrotal Hypospadias
Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Bifid scrotum, Crypto... OMIM:264600
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Alopecia, Oligomenorrhea OMIM:604931
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypop... ORPHA:3130
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Meier-Gorlin Syndrome 3
Failure to thrive, Micropenis, Sparse axillary hair, Hypospadias, Sparse pubic hair, Hypoplastic ... OMIM:613803
Bardet-Biedl Syndrome
Generalized hirsutism, Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicys... ORPHA:110
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney... ORPHA:90301
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Erythrokeratodermia Variabilis
Generalized hirsutism, Alopecia, Diabetes mellitus, Weight loss, Abnormality of the nail, Abnorma... ORPHA:317
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypertelorism, Small for gestational age, Increased urinary glycerol, Hypo... OMIM:307030
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Hypodontia, Brittle hair, Brittle scalp hair, Conical incisor OMIM:262020
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoac... OMIM:606528
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Deeply set eye OMIM:618512
Intellectual Developmental Disorder, X-Linked 108
High anterior hairline, Deeply set eye OMIM:301024
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Cachexia, Testicular neoplasm, Weight loss ORPHA:83469
Perlman Syndrome
Deeply set eye, Abnormal pancreas morphology, Hyperinsulinemia, Hypoplasia of penis, Cryptorchidism ORPHA:2849
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Deeply set eye, Decreased response to growth hormone stimulation test,... OMIM:300845
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hirsutism, Hyperinsulinemia, Splenomegaly, Decreased serum leptin, Decreased fer... OMIM:608594
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... ORPHA:2919
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Abnormality of male external genitalia, Hypospadi... ORPHA:813
Cronkhite-Canada Syndrome
Hypoplastic toenails, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyeb... ORPHA:2930
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephropathy, Abnormality of the uterus, Re... OMIM:194072
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
49,Xyyyy Syndrome
Abnormality of the testis size, Hypertelorism, External genital hypoplasia, Decreased serum testo... ORPHA:99330
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Deeply set eye, Failure to thrive OMIM:300934
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Pol... ORPHA:2298
Uvula, Bifid
Bifid uvula OMIM:192100
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Cleft Soft Palate
Cleft soft palate OMIM:119570
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... OMIM:262700
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamus-pituitary axi... ORPHA:2183
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hypertrichosis, Deeply set eye, Thick eyebrow, Horizontal eyebrow, Long eyelashes, Synophrys OMIM:618381
Forsythe-Wakeling Syndrome
Decreased body weight, Deeply set eye, Nephrotic syndrome, Thrombocytopenia OMIM:613606
Bachmann-Bupp Syndrome
Sparse scalp hair, Deeply set eye, Hypertelorism, Absent eyebrow, Sparse eyelashes, Hypoglycemia,... OMIM:619075
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Duplication Of Urethra
Dysuria, Chordee, Distal urethral duplication, Bifid scrotum, Micropenis, Uterus didelphys, Hypos... ORPHA:237
Zellweger Syndrome
Failure to thrive, Hypospadias, Multicystic kidney dysplasia, Primary adrenal insufficiency, Clit... ORPHA:912
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Thick eyebrow, Synophrys, Thick hair, Low posterior hairline ORPHA:2429
Gand Syndrome
Hypertelorism, Deeply set eye, Sparse hair OMIM:615074
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hirsutism, Deeply set eye, Abnormal hair whorl, Micropenis, Horseshoe kidney, Synophrys, Nail dys... OMIM:300860
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Long eyelashes, Incisor macrodo... OMIM:615502
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Cryptorchidism, R... OMIM:614736
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair ORPHA:1008
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Deeply set eye, Hypospadias, Hypotelorism ORPHA:276422
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Lessel-Kubisch Syndrome
Sparse pubic hair, Renal hypoplasia, Renal insufficiency, Hypogonadism, Premature graying of hair OMIM:618681
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Holoprosencephaly 9
Cleft upper lip, Dental malocclusion, Hypoplasia of the premaxilla, Cleft palate, Malar flattenin... OMIM:610829
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Proximal 16P11.2 Microduplication Syndrome
Failure to thrive, Deeply set eye, Sparse eyebrow, Micropenis, Sparse eyelashes, Decreased body m... ORPHA:370079
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Hirsutism, Adrenal overactivity, Premature pubarche, Increased circulating androgen c... OMIM:145295
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypotelorism, Sparse hair, Small for gestational age, Hypothyroidism, Renal hypoplasia, Fine hair... OMIM:616817
Aredyld Syndrome
Type II diabetes mellitus, Splenomegaly, Sparse body hair, Cachexia, Aplasia/Hypoplasia of the ey... ORPHA:1133
Fgfr2-Related Bent Bone Dysplasia
Hirsutism, Extramedullary hematopoiesis, Hepatosplenomegaly, Clitoral hypertrophy, Hypertelorism ORPHA:313855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... ORPHA:1808
Oculocerebrofacial Syndrome, Kaufman Type
Thin eyebrow, Failure to thrive, Clitoral hypertrophy, Absent eyebrow ORPHA:2707
Meier-Gorlin Syndrome 2
Failure to thrive, Labial hypoplasia, Clitoral hypertrophy, Breast hypoplasia, Hypoplastic labia ... OMIM:613800
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypothyroidism, Hypoglycemia... ORPHA:397590
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Failure to thrive, Deeply set eye, Thin eyebrow, Long eyelashes, Horseshoe kidney, Synophrys, Hyp... ORPHA:502434
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Fanconi Anemia, Complementation Group S
Failure to thrive, Low anterior hairline, Ovarian neoplasm, Sparse hair, Anemia, Long eyelashes, ... OMIM:617883
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Smith-Kingsmore Syndrome
Hypertelorism, Hypoglycemia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Curly hair OMIM:616638
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive, Anemia OMIM:610090
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Alopecia, Cachexia, Primary adrenal ... ORPHA:2047
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development,... ORPHA:785
8P23.1 Duplication Syndrome
Adrenal insufficiency, Deeply set eye, Hydronephrosis, Hypertelorism, Highly arched eyebrow ORPHA:251076
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Bicornuate uterus, Small for gestational age, Clitoral hypertrophy, Pelvic kid... OMIM:300707
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... OMIM:617575
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Hypogonadism ORPHA:97229
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Chordee, Labial hypoplasia, Vesicovaginal fistula, Hypertelorism, Abnormality of the endocrine sy... OMIM:201750
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Hypotelorism, Sparse hair, Lymphopenia, Micropenis, Anemia, Unilateral renal agen... OMIM:616541
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Conical mandibular incisor, Oligodontia, Discolored lateral incisors, Widely-spaced incisors OMIM:601668
Adducted Thumbs Syndrome
High palate, Hypertrichosis, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Dys... OMIM:201550
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth ORPHA:3145
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Hawkinsinuria
Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, Sparse hair, Hypothyroidism, Fine hair, 4-hyd... ORPHA:2118
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Intellectual Developmental Disorder, Autosomal Dominant 47
Deeply set eye, Supernumerary nipple, Small for gestational age, Thin eyebrow, Cryptorchidism OMIM:617635
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Hyperostosis Frontalis Interna
Hypertrichosis, Irregular menstruation, Increased circulating prolactin concentration, Diabetes m... OMIM:144800
Congenital Short Bowel Syndrome
Displacement of the urethral meatus, Sparse hair ORPHA:2301
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Deeply set eye, External genital hypoplasia, Micropenis, Frontal balding, Early balding, Truncal ... ORPHA:3041
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Thick eyebrow, Female infertility, Streak ovary, Hypergonadotropic hypo... ORPHA:572333
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Anemia, Cachexia, Weight loss ORPHA:298
Acrofacial Dysostosis, Palagonia Type
Pili torti, Low anterior hairline, Supernumerary tooth, Sparse hair, High, narrow palate, Sparse ... ORPHA:1787
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Aplasia/Hypoplasia of the eyebrow, S... ORPHA:2850
Hemifacial Atrophy, Progressive
Poliosis, Deeply set eye, Patchy alopecia OMIM:141300
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Cent... ORPHA:91355
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Inverted Duplicated Chromosome 15 Syndrome
Deeply set eye, Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Synophrys, Hyp... ORPHA:3306
47,Xyy Syndrome
Increased serum testosterone level, Hypertelorism, Cryptorchidism, Micropenis, Hypospadias, Oligo... ORPHA:8
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Developmental And Epileptic Encephalopathy 89
Sparse eyebrow, Hypoplastic labia minora, Clitoral hypertrophy, Hypertelorism, Highly arched eyeb... OMIM:619124
Freeman-Sheldon Syndrome
Failure to thrive, Cryptorchidism, Deeply set eye, Hypertelorism ORPHA:2053
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Seckel Syndrome 1
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Pancytopenia OMIM:210600
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Abnormal intern... ORPHA:1772
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Arthrogryposis, Distal, Type 1C
High palate, Narrow mouth, Pursed lips, Cleft palate, Retrognathia, Thin vermilion border, Bifid ... OMIM:619110
Atkin-Flaitz Syndrome
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... ORPHA:1193
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Hypogonadism, Azoos... OMIM:615234
Zimmermann-Laband Syndrome
High palate, Wide mouth, Thick eyebrow, Hypodontia, Macroglossia, Cleft palate, Supernumerary too... ORPHA:3473
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Birk-Barel Syndrome
High palate, Microretrognathia, Short philtrum, Submucous cleft soft palate, Bifid uvula, Long ey... OMIM:612292
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypertelorism OMIM:616901
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... ORPHA:1818
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Hypergonadotropic hypogonadism, Hyposegmentation of neutrophil nucl... ORPHA:250999
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Williams-Beuren Region Duplication Syndrome
Deeply set eye, Decreased response to growth hormone stimulation test, Unilateral renal agenesis,... OMIM:609757
Rhyns Syndrome
Hypopituitarism, Deeply set eye, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Weaver Syndrome
Hypoplastic toenails, Hypertelorism, Hypoplasia of penis, Deep-set nails, Abnormal fingernail mor... ORPHA:3447
Galactokinase Deficiency
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Small for gestationa... ORPHA:79237
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes mel... OMIM:268020
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Cleft palate, Abnormality of the dentition, Micrognathia, Long philtrum, Bifid uvula... ORPHA:576283
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Nail dystrophy, Anemia, Scarring alopecia of scalp ORPHA:79402
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Anterior hypopituitarism, Hypoh... ORPHA:181
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
14Q11.2 Microdeletion Syndrome
Hypertelorism, Deeply set eye, Highly arched eyebrow, Sparse lateral eyebrow ORPHA:261120
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm, Sparse hair, Alopecia ORPHA:50944
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Hypertelorism, Aminoaciduria, Hypospadias, Adrenal hypoplasia, Clitoral hypert... OMIM:214100
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Uterine neoplasm, Prostate cancer, Recurrent hypoglycemia, Hypoglycemia, Urinary... ORPHA:2126
Roberts Syndrome
Hypertelorism, Sparse hair, Long penis, Proptosis, Polycystic kidney dysplasia, Clitoral hypertro... ORPHA:3103
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Aredyld
Generalized hypotrichosis OMIM:207780
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Long eyelashes ORPHA:48431
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Sparse hair, Sparse eyebrow, Clitoral hypertrophy, Hypertelorism, Hypoplastic ... OMIM:244450
Classic Galactosemia
Primary amenorrhea, Oligomenorrhea, Abnormal erythrocyte enzyme level, Decreased fertility in fem... ORPHA:79239
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Abnormal hair pattern, Synophrys, Decreased testicular size, Hypog... ORPHA:85293
Intellectual Developmental Disorder, Autosomal Recessive 45
Deeply set eye, Thick eyebrow, Synophrys, Hypertelorism, Highly arched eyebrow OMIM:615979
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Narrow mouth, Microretrognathia, Cleft palate, Micrognathia, Bifid uvula, Cleft mand... OMIM:268305
Kennerknecht syndrome
Abdominal obesity, Hypoplasia of the uterus, Deeply set eye, Hypotelorism, Agonadism, Long eyelashes OMIM:600908
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Shashi-Pena Syndrome
Hypoglycemia, Proptosis, Highly arched eyebrow, Hypertelorism OMIM:617190
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Hirsutism, Deeply set eye, Small for gestational age, Insulin resistance, Cryp... OMIM:214150
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation of hair, F... ORPHA:2221
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Deeply set eye, Hypertelorism, Hypospadias, Synophrys, Cryptorchidism, Highly arched eyebrow OMIM:618316
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Failure to thrive, Cryptorchidism OMIM:618958
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Deep philtrum, Synophrys, Talon cusp, Highly arched eyebrow OMIM:605282
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Deeply set eye, Obesity, Low posterior hairline OMIM:600122
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Warburg Micro Syndrome 4
Hirsutism, Deeply set eye, Low anterior hairline, Micropenis, Decreased testicular size, Cryptorc... OMIM:615663
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Cardiocranial Syndrome, Pfeiffer Type
Hypertelorism, Sparse hair, Abnormal hair whorl, Micropenis, Hypospadias, Cryptorchidism ORPHA:2872
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... ORPHA:3464
Bencze Syndrome
Extension of hair growth on temples to lateral eyebrow, Open bite, Submucous cleft hard palate ORPHA:1241
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Proptosis, Fine hair, Brittle scalp hair OMIM:600771
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Irregu... ORPHA:1809
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia, Hypohidrosis, Hypertelorism ORPHA:884
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sparse hair OMIM:273390
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Sparse hair, Micropenis, Hy... OMIM:241080
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... ORPHA:786
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Lymphopenia, Hypergonadotropic hypogonadism, Hyposp... OMIM:617053
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Cachexia, Type I diabetes mellitus, Weight loss, Abnormal hair morphology ORPHA:1979
Zimmermann-Laband Syndrome 3
High palate, Hypertrichosis, Low anterior hairline, Thick eyebrow, Gingival overgrowth, Bifid uvu... OMIM:618658
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Malar flattening, Micrognathia, Bifid uvula, Pierre-Robin sequ... OMIM:604841
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Supernumerary maxillary incisor, Bilateral... ORPHA:199302
C Syndrome
Failure to thrive, Cryptorchidism, Clitoral hypertrophy, Renal cortical cysts OMIM:211750
Oculotrichodysplasia
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... OMIM:257960
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Deeply set eye, Sparse axillary hair, Small for gestational age... OMIM:608154
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Xp22.13P22.2 Duplication Syndrome
Sparse hair, Truncal obesity, Polycystic ovaries, Hypertelorism, High anterior hairline, Macroorc... ORPHA:284180
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Thick e... ORPHA:247768
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Deeply set eye, Hypertelorism, Cryptorchidism, Renal hypopla... ORPHA:464288
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Chordee, Deeply set eye, Type II diabetes mellitus, Sparse hair, Brittle hair, Small for gestatio... OMIM:618891
Laron Syndrome
Abnormality of the endocrine system, Hypoplasia of penis, Hypohidrosis, Truncal obesity, Hypoglyc... ORPHA:633
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Ear-Patella-Short Stature Syndrome
Failure to thrive, Hypoplasia of penis, Hypospadias, Clitoral hypoplasia, Breast aplasia, Hypopla... ORPHA:2554
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Deeply set eye, Nephrotic syndrome, Hypospadias, Synophrys, Proteinuria, Fine hair, Glomeruloneph... OMIM:619428
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, Ma... ORPHA:90790
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Primary amenorrhea, Increased size of the clitoris, Fused labia minora ORPHA:2975
Meier-Gorlin Syndrome 1
Failure to thrive, Micropenis, Hyperconvex nail, Small for gestational age, Hypoplastic labia min... OMIM:224690
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:90695
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Deeply set eye, Micropenis OMIM:618504
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Micropenis, Splenomegaly,... OMIM:613673
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Ataxia-Oculomotor Apraxia Type 4
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy ORPHA:459033
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Deeply set eye OMIM:619058
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Hypertelorism, Streak ovary, Micropenis, Uterus didelphys, Hyp... OMIM:618820
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Low anterior hairline, Small for gestational age, Truncal obesity, Hypoglycemi... ORPHA:73272
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Intellectual Developmental Disorder, Autosomal Dominant 52
Deeply set eye, Hypertelorism, Cryptorchidism, Low anterior hairline, Small for gestational age, ... OMIM:617796
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Sulfite Oxidase Deficiency, Isolated
Deeply set eye, Decreased urinary sulfate, Increased urinary sulfite, Fine hair, Sulfocysteinuria OMIM:272300
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... ORPHA:85138
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair OMIM:129490
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss OMIM:612075
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Deeply set eye, Truncal obesity OMIM:300471
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Christianson Syndrome
Cachexia, Deeply set eye, Thick eyebrow ORPHA:85278
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Hypospadias, Ridged fingernail, Shawl scrotum, Widow's ... ORPHA:1520
Beaulieu-Boycott-Innes Syndrome
Deeply set eye, Unilateral renal agenesis, Endometriosis, Horseshoe kidney, High anterior hairlin... OMIM:613680
Aromatase Deficiency
Generalized hirsutism, Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus... ORPHA:91
Tonne-Kalscheuer Syndrome
Hypotelorism, Hypertelorism, Micropenis, Hypospadias, Fine hair, Decreased testicular size, Crypt... OMIM:300978
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, High anterior hairline, Notched primary central incisor OMIM:620062
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... ORPHA:325345
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Wolman Disease
Adrenal insufficiency, Splenomegaly, Adrenal calcification, Cachexia, Anemia, Bone-marrow foam cells ORPHA:75233
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Hypertelorism, Deeply set eye, Sparse hair ORPHA:261304
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Absent eyelashes, Abn... OMIM:607823
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Abnormal circulating insulin concentratio... ORPHA:552
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Decreased response to growth hormone stimulation test, Cystin... OMIM:606407
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Retrognathia, Bifid uvula, Unilateral cleft lip, Cleft soft palate ORPHA:2736
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Trichodental Dysplasia
Fine hair, Sparse hair, Brittle hair, Slow-growing hair OMIM:601453
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Nail dysplasia, Failure to thrive, Deeply set eye, Sparse hair, Small for gestational age, Oligos... OMIM:614813