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 |