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
Agenesis of lateral incisor, Hypoplasia of the maxilla, Oral-pharyngeal dysphagia, Oral cleft, Pe... ORPHA:199306
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Onychauxis, Postprandial hyperglycemia, Hypog... OMIM:262190
Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Labial hypoplasia, Sparse axillary ... OMIM:300068
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Prim... OMIM:612964
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Deeply set eye, Truncal obesity, Failure to thrive, Sparse body hair, Decreased t... ORPHA:261483
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Agenesis of in... ORPHA:3352
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Delayed puberty, Female extern... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Abnormality of secondary sexual hair, Clitoral hypertrophy, Male infertility, Micropenis, Elevate... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Micropenis, Alopecia, Decreased testicular size, Woolly hair, Woo... OMIM:601217
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Hirsutism, Female exte... ORPHA:90791
Moynahan Syndrome
Sparse hair, Cachexia, Alopecia, Microcephaly, Hypogonadism ORPHA:2574
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Sparse axillary hair, Delayed puberty, Female external genitalia in individual wi... ORPHA:90796
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Sparse axillary hair, Primary amenorrhea, Sparse pubic hair, Hypogon... OMIM:146110
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hirsutism, Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Cli... ORPHA:90795
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Pro... OMIM:246200
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Deeply set eye, Decreased serum testost... OMIM:300869
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mell... ORPHA:181393
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Sparse body hair, Hypogonadism, Micropenis, Obesity ORPHA:85274
Oliver-Mcfarlane Syndrome
Cryptorchidism, Sparse hair, Long eyelashes, Delayed puberty, Small for gestational age, Alopecia... OMIM:275400
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Deeply set eye, Breast aplasia, Sparse pubic hair... ORPHA:3044
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Hirsutism, Dysgerminoma, Sparse axillary hair, Hypospadias... OMIM:613762
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of th... ORPHA:202
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Mental Retardation Syndrome, Belgian Type
Hypergonadotropic hypogonadism, Deeply set eye, Diabetes mellitus, Eunuchoid habitus OMIM:249599
Orofacial Cleft 15
Agenesis of lateral incisor, Sparse eyebrow, Sparse eyelashes, High anterior hairline, Palate fis... OMIM:616788
Congenital Generalized Lipodystrophy
Low anterior hairline, Low posterior hairline, Hyperinsulinemia, Insulin resistance, Amenorrhea, ... ORPHA:528
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Small nail, Hypergon... ORPHA:163971
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona... OMIM:240950
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:289548
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Decreased circulating gonadotropin c... OMIM:614841
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
46,Xx Sex Reversal 4
Ambiguous genitalia, Clitoral hypertrophy, Micropenis, Penoscrotal hypospadias OMIM:617480
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Abnormality of sec... ORPHA:95619
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Myotonic Dystrophy 2
Oligospermia, Frontal balding, Insulin insensitivity, Elevated circulating follicle stimulating h... OMIM:602668
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Broad uvula, Frontal upsweep ... OMIM:311450
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Ele... OMIM:618187
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Mental Retardation, Autosomal Dominant 47
Cryptorchidism, Deeply set eye, Cerebral atrophy, Thin eyebrow, Microcephaly OMIM:617635
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Diencephalic Syndrome
Long penis, Decreased body weight, Hyperhidrosis, Cachexia, Abnormality of the hypothalamus-pitui... ORPHA:1672
Rabson-Mendenhall Syndrome
Premature graying of hair, Impaired glucose tolerance, Hirsutism, Hypertrichosis, Clitoral hypert... ORPHA:769
Bent Bone Dysplasia Syndrome
Clitoral hypertrophy, Hirsutism, Hypertelorism, Hepatosplenomegaly OMIM:614592
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Parc Syndrome
Absent eyelashes, Microretrognathia, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Wilson-Turner Syndrome
Cryptorchidism, Deeply set eye, Thick eyebrow, Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia, Hypoplasia of penis ORPHA:2022
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Hypoplasia of the max... ORPHA:99772
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Hypertelorism, Widow's peak, Bila... OMIM:305400
W Syndrome
Agenesis of maxillary central incisor, Abnormality of the scalp hair, Upper lip pit, Broad uvula,... ORPHA:2804
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Leprechaunism
Central hypothyroidism, Hypercalciuria, Hypertrichosis, Clitoral hypertrophy, Insulin resistance,... ORPHA:508
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... ORPHA:432
49,Xxxyy Syndrome
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Eunuchoid habit... ORPHA:261534
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Sparse hair, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, Prem... OMIM:618625
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Warburg Micro Syndrome 1
Cryptorchidism, Hypoplasia of the corpus callosum, Deeply set eye, Cerebral atrophy, External gen... OMIM:600118
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Abnormality of secondary sexual... ORPHA:759
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Abnormality of secondary sexual hair, Streak ovary, Pri... ORPHA:243
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Pituitary hypothyroidism, Delayed puberty, Decreased female... ORPHA:91348
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Scrotal hypoplasia, Decreased fertility, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... ORPHA:206484
Mehmo Syndrome
Male hypogonadism, Hypoplasia of the corpus callosum, Hypoglycemia, Obesity, Delayed puberty, Sma... OMIM:300148
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Auriculocondylar Syndrome 3
Bifid uvula, Retrognathia, Micrognathia, Glossoptosis OMIM:615706
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Sparse hair, Abnormality of the dentition, Supernumerary tooth, Uncombable hair ORPHA:1264
Mcdonough Syndrome
Cryptorchidism, Hypertelorism, Cachexia, Synophrys ORPHA:2471
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Sparse hair, Decreased body weight, Proptosis, Hypertrichosi... OMIM:272440
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Deeply set eye, Delayed puberty, Hypoplasia of the prostate, Microcephaly, Microp... OMIM:301900
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Renpenning Syndrome
Thin eyebrow, Abnormal hair laboratory examination, Cachexia, Alopecia, Hypospadias, Decreased te... ORPHA:3242
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol... ORPHA:168563
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Transaldolase Deficiency
Synophrys, Pancytopenia, Thrombocytopenia, Splenomegaly, Small for gestational age, Failure to th... OMIM:606003
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Sparse hair ORPHA:1174
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Thick ... ORPHA:2751
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypointensity of cerebral white matter on MRI, Abnormal hair whorl, Deeply set eye, Hirsutism, Sy... OMIM:300860
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Fgfr2-Related Bent Bone Dysplasia
Hypertelorism, Extramedullary hematopoiesis, Hirsutism, Clitoral hypertrophy, Hepatosplenomegaly ORPHA:313855
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Genitopatellar Syndrome
Cryptorchidism, Agenesis of corpus callosum, Hypertelorism, Scrotal hypoplasia, Multicystic kidne... ORPHA:85201
Cornelia De Lange Syndrome 5
Cryptorchidism, Low anterior hairline, Highly arched eyebrow, Hypertelorism, Deeply set eye, Hirs... OMIM:300882
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypoglycemia, Pancytopenia, Failure to thrive, Hypogonadism OMIM:617872
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow, Absent axi... OMIM:618419
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Clitoral hypertrophy, Spontan... ORPHA:96181
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Sparse hair, Deeply set eye, Scrotal hypoplasia, Thick eyebrow, Truncal obesity, ... ORPHA:127
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypertelorism, Premature graying of hair, Hypergonadotropic hypogonadism, Deeply set... ORPHA:280679
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Knee flexion ... OMIM:602484
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary, Alopecia OMIM:241090
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Aica-Ribosiduria
Fused labia minora, Clitoral hypertrophy ORPHA:250977
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Mental Retardation, Autosomal Recessive 45
Deeply set eye, Thick eyebrow OMIM:615979
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, Ovotestis, Palmoplantar hyperhidrosis, Small nail, Decreased testicular size... OMIM:610644
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate, Micrognathia ORPHA:2016
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Cleft palate, Bifid uvula, Retrognathia, Micrognathia, Submucous cleft har... ORPHA:2521
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Björnstad Syndrome
Hypogonadism, Brittle hair, Alopecia ORPHA:123
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
2P21 Microdeletion Syndrome
Long eyelashes, Hypoglycemia, Cystinuria, Failure to thrive, Hypogonadism, Nephrolithiasis ORPHA:163693
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Sparse hair, Bifid scrotum, Nail dysplasia, Sparse lateral eyebrow, Sparse or abs... ORPHA:217346
Seckel Syndrome 5
Cryptorchidism, Clitoral hypertrophy, Microcephaly, Abnormal cortical gyration OMIM:613823
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity OMIM:615418
Uvula, Bifid
Bifid uvula OMIM:192100
Seckel Syndrome 9
Ambiguous genitalia, Microcephaly, Hypertrichosis, Small for gestational age, Simplified gyral pa... OMIM:616777
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Hypoglycemia, Small for gestational age, Hyperhidrosis, L... ORPHA:231137
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Hypoplastic toenails, Thin toenail, Ridged fingernail, Polycystic ovarie... ORPHA:2228
Cleft Soft Palate
Cleft soft palate OMIM:119570
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Disorder Of Sex Development-Intellectual Disability Syndrome
Deeply set eye, Scrotal hypoplasia, Synophrys, Hypogonadism, Hypoplasia of penis, Abnormal hair p... ORPHA:2983
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Hypodontia, Sparse scalp hair, Brittle hair, Conical incisor OMIM:262020
Forsythe-Wakeling Syndrome
Deeply set eye, Decreased body weight, Thrombocytopenia, Nephrotic syndrome, Microcephaly OMIM:613606
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Delayed puberty, Aplasia of the ovary, Hypergonadotropic hypogonadism, Sparse fac... ORPHA:2232
Frasier Syndrome
Renal insufficiency, Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal s... ORPHA:347
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Hypertelorism, Megaloblastic anemia, Deeply set eye, Abnormal erythrocyte ... ORPHA:2575
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Deeply set eye, Scrotal hypoplasia, Small for gestational age, Microcephaly, Micropenis OMIM:610756
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Cryptorchidism, Deeply set eye, Patchy alopecia, Decreased testicular size, Microcephaly ORPHA:85279
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Curly hair, Agenesis of maxillary incisor, Bifi... ORPHA:1401
Familial Male-Limited Precocious Puberty
Long penis, Abnormal hair morphology, Oligospermia, Macroorchidism, Male infertility, Precocious ... ORPHA:3000
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Deeply set eye, Sparse hair, Alopecia OMIM:617763
Tooth Agenesis, Selective, 8
Microdontia, Sparse eyebrow, Sparse hair, Selective tooth agenesis OMIM:617073
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Renal tubular dysfu... OMIM:606528
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology OMIM:606072
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Hypertelorism, Renal cortical microcysts, Polymicrogyria, Macrogyria, Renal cyst,... OMIM:614866
Megalencephaly
Deeply set eye, Truncal obesity, Macroorchidism, Long penis ORPHA:2477
Pierpont Syndrome
Cryptorchidism, Hypertelorism, High anterior hairline, Deeply set eye, Primary microcephaly, Abno... ORPHA:487825
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Meier-Gorlin Syndrome 3
Cryptorchidism, Breast hypoplasia, Scrotal hypoplasia, Microcephaly, Sparse axillary hair, Sparse... OMIM:613803
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia, Abnormal hair morphology OMIM:190320
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Supernumerary tooth, Pili canaliculi, Microdontia, Uncombable hair OMIM:191482
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypertelorism, Premature graying of hair, Hypergonadotropic hypogonadism, Deeply set... OMIM:300845
Congenital Disorder Of Glycosylation, Type Iy
Hypoplasia of the corpus callosum, Deeply set eye, Failure to thrive, Hypospadias, Microcephaly OMIM:300934
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
External genital hypoplasia, Hypoglycemia, Hyperhidrosis, Small for gestational age, Secondary mi... ORPHA:231147
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Hypoglycemia, Pr... ORPHA:95496
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Pierpont Syndrome
Cryptorchidism, Hypertelorism, High anterior hairline, Deeply set eye, Decreased body weight, Fai... OMIM:602342
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
O'Donnell-Luria-Rodan Syndrome
Abnormal corpus callosum morphology, Cryptorchidism, Abnormal cerebral white matter morphology, D... OMIM:618512
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Thin vermilion border, Open mouth, Long eyelashes, Synophrys, Thick eyebro... OMIM:617412
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Abnormal hair morphology, Perineal hypo... OMIM:264600
Adducted Thumbs Syndrome
Dysphagia, Hypertrichosis, Cleft palate, High palate, High, narrow palate, Velopharyngeal insuffi... OMIM:201550
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Sparse eyebrow, Hypertelorism, Deeply set eye, Abnormality of the hair... ORPHA:370079
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Open mouth, Broad philtrum, Dysphagia, High, narrow palate... ORPHA:166108
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypertelorism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplas... OMIM:214110
Meier-Gorlin Syndrome 7
Cryptorchidism, Thin eyebrow, Decreased body weight, Proptosis, Vesicoureteral reflux, Urethral s... OMIM:617063
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Mandibular prognathia, Thick upper lip vermilion, Abnormality of the dentition, T... OMIM:226440
Bachmann-Bupp Syndrome
Cryptorchidism, Small nail, Focal polymicrogyria, Hypertelorism, Deeply set eye, Absent eyebrow, ... OMIM:619075
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Hirsutism... ORPHA:90301
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypertelorism, Hypoglycemia, Adrenal insufficiency, Sm... OMIM:307030
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Deeply set eye, Hypospadias, Hypotelorism, Microcephaly ORPHA:276422
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Erythrokeratodermia Variabilis
Abnormality of the nail, Abnormal hair morphology, Abnormal testis morphology, Weight loss, Alope... ORPHA:317
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Decreased body weight, Hypoglycemia, Small for gestational age, Hyperhidro... ORPHA:231140
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye, High anterior hairline OMIM:301024
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Aica-Ribosuria Due To Atic Deficiency
Fused labia minora, Clitoral hypertrophy OMIM:608688
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Abnormal hai... ORPHA:3130
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Hypertelorism, Abnormal... ORPHA:99330
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Splenomegaly, Patchy alopecia, Dystrophi... ORPHA:2930
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Deeply set eye, Hypoplasia of penis, Abnormal pancreas morphology ORPHA:2849
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Increased level of galactitol in ... ORPHA:79237
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Zellweger Syndrome
Cryptorchidism, Primary adrenal insufficiency, Multicystic kidney dysplasia, Polymicrogyria, Hydr... ORPHA:912
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Anemia, Progressive microcephaly, Hypoglycemia OMIM:610090
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Horizontal eyebrow, Deeply set eye, Long eyelashes, Synophrys, Thick eyebrow, Hypertrichosis OMIM:618381
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Low posterio... ORPHA:2183
Bardet-Biedl Syndrome
Cryptorchidism, Medial flaring of the eyebrow, Multicystic kidney dysplasia, Nephrotic syndrome, ... ORPHA:110
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Insulin resistance, Premature adrenarche, Secondary m... ORPHA:813
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hirsutism, Weight loss, Type II diabetes mellitus, Leukopenia, Ins... ORPHA:2298
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Testicular atrophy, Anemia, Microcephaly, Hypogonadism OMIM:618165
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Agenesis of incisor, Bilateral cleft lip and palate... OMIM:610829
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Hirsutism, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syn... OMIM:608709
Gand Syndrome
Deeply set eye, Hypertelorism, Sparse hair OMIM:615074
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Weight loss, Cachexia, Anemia, Testicular neoplasm, Neoplasm of the pancreas ORPHA:83469
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:398073
Lessel-Kubisch Syndrome
Premature graying of hair, Renal hypoplasia, Sparse pubic hair, Renal insufficiency, Hypogonadism OMIM:618681
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Deeply set eye, Synophrys, Thick eyebrow, Low posterior hairline ORPHA:2429
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Sparse hair, Renal hypoplasia, Hypoplasia of the corpus callosum, Hypothyroidism,... OMIM:616817
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors OMIM:601668
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Clitoral hypertrophy, H... OMIM:608594
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Smith-Kingsmore Syndrome
Cryptorchidism, Perisylvian polymicrogyria, Hypertelorism, Curly hair, Hypoglycemia, Thrombocytop... OMIM:616638
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Horseshoe kidney, Deeply set eye, Long eyelashes, Synophrys, Failure to thrive, T... ORPHA:502434
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemia, Renal salt wasting, Congenital hypothyroidism, Failure to thrive, P... OMIM:614736
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Clitoral hypertrophy, H... OMIM:269700
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Amenorrhea, Increased circulating androgen concentration, Hirsutism, Adrenal ... OMIM:145295
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia,... ORPHA:572333
Flynn-Aird Syndrome
Primary adrenal insufficiency, Cerebral cortical atrophy, Abnormality of the thyroid gland, Cache... ORPHA:2047
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Sparse hair, Hypothyroidism, Failure to thrive, 4-Hydroxyphenylpy... ORPHA:2118
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Aredyld Syndrome
Abnormality of the ureter, Splenomegaly, Type I diabetes mellitus, Cachexia, Type II diabetes mel... ORPHA:1133
Oculocerebrofacial Syndrome, Kaufman Type
Thin eyebrow, Absent eyebrow, Failure to thrive, Clitoral hypertrophy, Microcephaly ORPHA:2707
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Sparse hair, Hypotelorism, Insulin resistance, Renal hypoplasia, Hypothyroidism, ... OMIM:616541
Temple Syndrome
Cryptorchidism, Obesity, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglyc... ORPHA:254516
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Hypothyroidism, Hypoglyc... ORPHA:397590
Meier-Gorlin Syndrome 2
Breast hypoplasia, Hypoplastic labia majora, Failure to thrive, Clitoral hypertrophy, Labial hypo... OMIM:613800
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Oligomenorrhea OMIM:604931
Fanconi Anemia, Complementation Group S
Low anterior hairline, Hypertelorism, Sparse hair, Ovarian neoplasm, Long eyelashes, Failure to t... OMIM:617883
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Long eyelashes, Cleft pa... OMIM:615502
Robin Sequence With Cleft Mandible And Limb Anomalies
Narrow mouth, Pierre-Robin sequence, Cleft lower alveolar ridge, Microretrognathia, Aplasia of th... OMIM:268305
8P23.1 Duplication Syndrome
Highly arched eyebrow, Hypertelorism, Deeply set eye, Adrenal insufficiency, Hydronephrosis ORPHA:251076
Cerebellofaciodental Syndrome
Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse and thin eye... OMIM:616202
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Hypothyroidism, Lymphopenia, Hypoglycemia, Ad... OMIM:617575
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria, Hypoglycemia OMIM:617950
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, High anterior hairline, Hirsutism, Hypoplas... ORPHA:247768
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Hypogonadism, Cachexia, Diabetes insipidus ORPHA:97229
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Sheehan Syndrome
Pituitary hypothyroidism, Sparse axillary hair, Abnormal size of pituitary gland, Obesity, Adreno... ORPHA:91355
Hyperostosis Frontalis Interna
Irregular menstruation, Hypertrichosis, Increased circulating prolactin concentration, Diabetes m... OMIM:144800
Bencze Syndrome
Open bite, Extension of hair growth on temples to lateral eyebrow, Submucous cleft hard palate ORPHA:1241
Alopecia-Intellectual Disability Syndrome
Hypergonadotropic hypogonadism, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, S... ORPHA:2850
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Periventricular white matter hypodensities, Hypoplasia of the corpus callosu... ORPHA:543470
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Hypertelorism, Oligospermi... ORPHA:8
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Acrofacial Dysostosis, Palagonia Type
Low anterior hairline, Oligodontia, Sparse hair, Unilateral cleft lip, Sparse lateral eyebrow, Su... ORPHA:1787
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hypertelorism, Alb... OMIM:214100
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Deeply set eye, External genital hypoplasia, Frontal balding, Early balding, Truncal obesity, Dec... ORPHA:3041
Hemifacial Atrophy, Progressive
Deeply set eye, Poliosis, Patchy alopecia OMIM:141300
Seckel Syndrome 1
Cryptorchidism, Pachygyria, Hypospadias, Pancytopenia, Large basal ganglia, Clitoral hypertrophy,... OMIM:210600
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Abnormal cerebral white matter morphology, Weight loss, Cachexia,... ORPHA:298
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Congenital Short Bowel Syndrome
Displacement of the urethral meatus, Sparse hair ORPHA:2301
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
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Penile hypospadias, Rectourethral fistula, Bifid scrotum, C... ORPHA:237
Developmental And Epileptic Encephalopathy 89
Highly arched eyebrow, Sparse eyebrow, Hypertelorism, Hypoplasia of the corpus callosum, Cerebral... OMIM:619124
Warburg Micro Syndrome 4
Cryptorchidism, Low anterior hairline, Hypoplasia of the corpus callosum, Deeply set eye, Hirsuti... OMIM:615663
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Hypertelorism, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:616901
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Low posterior ... ORPHA:1772
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Woodhouse-Sakati Syndrome
Sparse hair, Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypopl... OMIM:241080
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Deeply set eye, Unilateral renal agenesis, Synophrys, Hypogonadism, Microcephaly,... ORPHA:3306
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Lymphopenia, Deeply... ORPHA:391307
Arthrogryposis, Distal, Type 1C
Pursed lips, Thin vermilion border, Narrow mouth, Cleft lip, Cleft palate, Bifid uvula, High pala... OMIM:619110
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Rectovaginal fistula, Bicornuate uterus, Small for gestational age, Vesicoureteral reflux, Pelvic... OMIM:300707
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Ab... ORPHA:1818
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Adrenocorticotropic hormone exce... ORPHA:100083
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Ambiguous genitalia, Hypertelorism, Horseshoe kidney, Bifid scrotum, Chordee, Ele... OMIM:201750
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Hypergonadotropic hypogonadism, Cerebral atrophy, Insulin-resistant diabetes mellitu... OMIM:268020
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Sparse hair OMIM:606242
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Anemia, Splenomegaly, Hypogonadism, ... OMIM:615234
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Bloom Syndrome
Hypertrichosis, Agenesis of maxillary lateral incisor, Malar flattening OMIM:210900
Histidinuria-Renal Tubular Defect Syndrome
Hypoplastic toenails, Hypoglycemia, Cerebral cortical atrophy, Histidinuria, Impaired histidine r... ORPHA:2158
Cubitus Valgus With Mental Retardation And Unusual Facies
Microcephaly, Truncal obesity, Deeply set eye OMIM:300471
Granddad Syndrome
Deeply set eye, Abnormal hair morphology OMIM:138920
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Long eyelashes, Hypodontia, Generalized hypertri... ORPHA:3473
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Sparse and thin eyebrow, Failure to thrive, Secondary microcephaly, Spa... OMIM:610768
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Agenesis of corpus callosum, Hypertelorism, Chordee, Ab... OMIM:618820
Rhyns Syndrome
Nephronophthisis, Deeply set eye, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small nail, Sparse hair, Hypertelorism, Breast hypoplasia, Oligospermia, Deeply set eye, Clitoral... OMIM:614813
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Oli... ORPHA:79239
Christianson Syndrome
Aplasia/Hypoplasia of the corpus callosum, Deeply set eye, Cerebral cortical atrophy, Thick eyebr... ORPHA:85278
Shashi-Pena Syndrome
Highly arched eyebrow, Hypertelorism, Hypoglycemia, Proptosis OMIM:617190
Addison Disease
Sparse axillary hair, Weight loss, Delayed puberty, Decreased circulating aldosterone level, Thia... ORPHA:85138
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Sparse hair, Type I diabetes mellitus, Aplasia/Hypoplasia of the eyebrow, Sparse bo... ORPHA:181
Birk-Barel Syndrome
Highly arched eyebrow, Short philtrum, Microretrognathia, Dysphagia, Submucous cleft soft palate,... OMIM:612292
Chromosome 22Q11.2 Duplication Syndrome
High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Dysphagia, Smooth philtrum, Abnormality of the dentition, Thin upper lip... ORPHA:576283
Mental Retardation, Autosomal Recessive 39
Deeply set eye, Synophrys OMIM:615541
Ovarian Fibrothecoma
Abnormality of the ovary, Hirsutism, Abnormality of the endometrium, Metrorrhagia, Gonadal calcif... ORPHA:314478
Zimmermann-Laband Syndrome 3
Low anterior hairline, Thick hair, Long eyelashes, Synophrys, Facial hypertrichosis, Thick eyebro... OMIM:618658
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Fine hair, Fragile nails, ... ORPHA:500166
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Scarring alopecia of scalp, Anemia, Sparse body hair, Nail dystrophy ORPHA:79402
Weaver Syndrome
Cryptorchidism, Hypoplastic toenails, Hypertelorism, Deep-set nails, Thin nail, Hypoplasia of pen... ORPHA:3447
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Chordee, Hypoplasia of the corpus callosum, Deeply set eye, Cerebral atrophy, Failur... OMIM:618891
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Deeply set eye, Low posterior hairline, Male pseudohermaphroditism, Obesity OMIM:600122
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Abnormality of the endocrine system, Hypertelorism, Pseudohypoparathyroidism, Hyp... ORPHA:464288
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Deeply set eye, Sparse lateral eyebrow, Hypertelorism ORPHA:261120
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Cerebral cortical atrophy, Long eyelashes, Hypoglycemia ORPHA:48431
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Sparse facial hair, Deeply set eye, Sparse axillary hair, Small for gestational ag... OMIM:608154
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Brittle scalp hair, Fine hair, Proptosis OMIM:600771
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Small nail, Hypergonadotropic hypogonadism, Deeply set eye, Hyposegmentation of n... ORPHA:250999
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Freeman-Sheldon Syndrome
Cryptorchidism, Deeply set eye, Hypertelorism, Failure to thrive ORPHA:2053
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Deep philtrum, Diastema, Synophrys, Cleft palate, Microdontia OMIM:605282
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Deeply set eye, Microcephaly, Decreased body weight OMIM:618342
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Failure to thrive, Microcephaly, Hypoglycemia OMIM:618958
Kaufman Oculocerebrofacial Syndrome
Hypertelorism, Sparse hair, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Sparse a... OMIM:244450
Aredyld
Generalized hypotrichosis OMIM:207780
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Long eyelashes, Cystinuria, Failure to thr... OMIM:606407
X-Linked Intellectual Disability, Cabezas Type
Synophrys, Hypogonadism, Hyperhidrosis, Cachexia, Hypoplasia of penis, Decreased testicular size,... ORPHA:85293
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Velopharyngeal i... ORPHA:199302
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Abnormality of the basal ganglia, Failure to thrive, Microcephaly, 3-Methylglutacon... ORPHA:67046
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300602
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypoglycemia, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Cleft palate, Bifid uvula, High, narrow palate, Micrognathia, Malar flatte... OMIM:604841
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Increased urinary cortisol level, Infertility, Increased circulating cortiso... ORPHA:786
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Hypoglycemia, Uterine neoplasm, Hypoinsulinemia, Weight loss, Urinary retention,... ORPHA:2126
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Horizontal eyebrow, Hypoplasia of the corpus callosum, Deeply set eye, Unilateral... OMIM:609757
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse hair, Short eyelashes, Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Hypertelorism, Sparse hair, Abnormal hair whorl, Hypospadias, Micropenis ORPHA:2872
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypertelorism, Sparse hair, Deeply set eye, Failure to thrive, Aplasia/Hypoplasia of the eyebrow,... ORPHA:261304
Meier-Gorlin Syndrome 1
Cryptorchidism, Breast hypoplasia, Shawl scrotum, Hyperconvex nail, Long eyelashes, Microcephaly,... OMIM:224690
Tetrasomy 12P
Hypohidrosis, Hypertelorism, Sparse hair, Sparse and thin eyebrow, Cachexia ORPHA:884
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dysplasia, Thrombocytopenia, Testicular atrophy, Pancytopenia, Cerebral calcification, Nail ... OMIM:613987
Xp22.13P22.2 Duplication Syndrome
Hypertelorism, Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries, Truncal o... ORPHA:284180
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Abnormal cerebral white matter morphology, Cachexia, Weight loss OMIM:613662
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Hypoplasia of the corpus callosum, Deeply set eye, Secondary ... OMIM:615926
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Lymphopenia, Apl... ORPHA:100
Kennerknecht Syndrome
Deeply set eye, Hypoplasia of the uterus, Long eyelashes, Abdominal obesity, Hypotelorism, Agonadism OMIM:600908
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Premature graying of hair, Weight loss, Type I diabetes mellitus, Cachexia ORPHA:1979
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Roberts Syndrome
Cryptorchidism, Hypertelorism, Sparse hair, Long penis, Proptosis, Thrombocytopenia, Polycystic k... ORPHA:3103
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Deeply set eye, Hypotelorism, Microcephaly OMIM:612530
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abno... ORPHA:90695
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Irregular menstruation, Absent eyebrow, Nail dysplasia, Sparse... ORPHA:1809
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Hypogly... OMIM:617053
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational a... ORPHA:73272
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Alopecia, Splenomegaly ORPHA:100025
C Syndrome
Cryptorchidism, Renal cortical cysts, Failure to thrive, Clitoral hypertrophy, Microcephaly OMIM:211750
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Thin upper lip vermilion, Triangula... OMIM:616331
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Breast aplasia, Clitoral hypoplasia, Hypoplastic labia major... ORPHA:2554
Oculotrichodysplasia
Trichodysplasia, Generalized hypotrichosis, Sparse axillary hair, Nail dysplasia, Sparse scalp ha... OMIM:257960
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit... ORPHA:251623
Laron Syndrome
Hypohidrosis, Hypoglycemia, Truncal obesity, Delayed puberty, Hypoplasia of penis, Abnormality of... ORPHA:633
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Ovarian neoplasm, Weight loss, Generalized... ORPHA:2221
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye, Obesity OMIM:619058
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Failure to thrive, Alopecia, Microcephaly, Nail dystrophy OMIM:616353
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye, Recurrent hypoglycemia, Periventricular white matter hyperdensities OMIM:618158
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy, Obesity ORPHA:459033
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Retrognathia ORPHA:2736
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Deeply set eye, Micropenis OMIM:618504
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Macroorchidism, postpubertal,... ORPHA:91
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration... ORPHA:361
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Hirsutism, Failure to thrive, Microcephaly, Agenesis of corpus callosum OMIM:214150
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Low anterior hairline, Sparse hair, Hypotelorism, Hypoplasia of the corpus callosum, Hypothyroidi... ORPHA:391408
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300431
Tonne-Kalscheuer Syndrome
Cryptorchidism, Small nail, Hypertelorism, Microcephaly, Hypospadias, Decreased testicular size, ... OMIM:300978
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Bicornuate uterus, Hypoplastic fingernail, Micropenis OMIM:268650
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Ambiguous genitalia, female, Primary amenorrhea ORPHA:2975
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Highly arched eyebrow, Hypertelorism, Deeply set eye, Synophrys, Hypospadias OMIM:618316
Trichothiodystrophy 2, Photosensitive
Decreased fertility, Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
46,Xy Ovotesticular Disorder Of Sex Development
Ambiguous genitalia, Ovotestis, Urogenital sinus anomaly, Bifid scrotum, Chordee, Gonadoblastoma,... ORPHA:325345
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Micropenis, Deeply set eye, Patchy alopecia, Decreased testicular size, Microcephaly OMIM:300534
Xfe Progeroid Syndrome
Renal insufficiency, Deeply set eye, Cachexia, Microcephaly, Proteinuria OMIM:610965
Specific Granule Deficiency 2
Absent neutrophil specific granules, Hirsutism, Neutropenia, Nail dysplasia, Thrombocytopenia, An... OMIM:617475
Craniofrontonasal Dysplasia
Hypertelorism, Hypoplasia of the corpus callosum, Widow's peak, Shawl scrotum, Ridged fingernail,... ORPHA:1520
Coffin-Siris Syndrome 11
Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High palate, Low poster...