Ectodermal Dysplasia With Adrenal Cyst |
|
Breast hypoplasia, Hypoplastic nipples |
OMIM:129550 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Sparse pubic hair, Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, D... |
ORPHA:52901 |
Becker Nevus Syndrome |
|
Unilateral breast hypoplasia |
OMIM:604919 |
Bullous Lichen Planus |
|
Breast aplasia |
ORPHA:33408 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Anterior hypopituitarism, Breast hypoplasia, Decreased ferti... |
ORPHA:2235 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Wide intermamillary distance, Sparse body hair, Breast hypoplasia, Decreased t... |
ORPHA:432 |
Nipples, Supernumerary |
|
Supernumerary nipple |
OMIM:163700 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Breast hypoplasia, Primary amenorrhea, Increased circulating gonadot... |
ORPHA:785 |
Adult Syndrome |
|
Absent nipple, Wide intermamillary distance, Fair hair, Breast hypoplasia, Alopecia of scalp, Spa... |
OMIM:103285 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, ... |
ORPHA:2232 |
Kallmann Syndrome |
|
Breast hypoplasia, Decreased testicular size, Gynecomastia, Cryptorchidism, Decreased fertility, ... |
ORPHA:478 |
Adult Syndrome |
|
Alopecia, Absent nipple, Fine hair, Breast hypoplasia, Hypoplastic nipples, Sparse scalp hair |
ORPHA:978 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Meier-Gorlin Syndrome 4 |
|
Breast hypoplasia, Cryptorchidism |
OMIM:613804 |
Ring Chromosome 12 Syndrome |
|
Breast hypoplasia, Dystrophic toenail, Cryptorchidism, Hirsutism |
ORPHA:1439 |
Sheehan Syndrome |
|
Secondary growth hormone deficiency, Sparse pubic hair, Breast hypoplasia, Panhypopituitarism, De... |
ORPHA:91355 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Primary amenorrhea |
ORPHA:319675 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia |
OMIM:612242 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Aplasia/Hypoplasia of the nipples, Absent nipple, Hypoplastic areola, Aplasia/Hypoplasia of the b... |
OMIM:113700 |
Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Atroph... |
OMIM:308300 |
Meier-Gorlin Syndrome 2 |
|
Breast hypoplasia |
OMIM:613800 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Breast hypoplasia, Long eyelashes, Cryptorchidism, Absent axillary hair |
OMIM:601353 |
Craniofrontonasal Syndrome |
|
Breast hypoplasia, Cryptorchidism, Low posterior hairline, Unilateral breast hypoplasia, Curly ha... |
OMIM:304110 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Breast hypoplasia, Sparse hair, Oligozoospermia |
OMIM:614813 |
Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Aplasia of the ovary, Hypoplastic nipple... |
ORPHA:69085 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Hypoplastic nipples, Sparse hair |
OMIM:230740 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Testicular gonadoblastoma, Cry... |
ORPHA:755 |
Estrogen Resistance |
|
Breast aplasia, Primary amenorrhea, Polycystic ovaries |
OMIM:615363 |
Meier-Gorlin Syndrome 3 |
|
Breast hypoplasia, Sparse pubic hair, Sparse axillary hair, Cryptorchidism |
OMIM:613803 |
Ablepharon Macrostomia Syndrome |
|
Aplasia/Hypoplasia of the nipples, Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair ... |
ORPHA:920 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Supernumerary nipple, Sparse body hair, Absent eyelashes, Trichodysplasia... |
ORPHA:1809 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Hypogonadism, Decreased fertility, Gynecomastia, Hypogonadotropic hypogonadism |
ORPHA:1173 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Unilateral breast hypoplasia, Hypertrichosis |
OMIM:300968 |
Aymé-Gripp Syndrome |
|
Breast hypoplasia, Long eyelashes, Cryptorchidism, Sparse scalp hair |
ORPHA:1272 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Cryptorchidism, Anterior pituitary hypoplasia |
ORPHA:464306 |
Meier-Gorlin Syndrome 1 |
|
Breast hypoplasia, Long eyelashes, Cryptorchidism |
OMIM:224690 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Sparse pubic hair, Elevated circulating luteinizing hormone level, Breast aplasia, Decreased test... |
ORPHA:3044 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Sparse lateral eyebrow, Breast h... |
OMIM:181450 |
Barber-Say Syndrome |
|
Breast aplasia, Sparse or absent eyelashes, Generalized hirsutism, Hypoplastic nipples, Aplasia/H... |
ORPHA:1231 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Highly arched eyebrow, Absent nipple, Cryptorchidism, Hypoplastic nipples, Hypoplastic areola |
OMIM:616001 |
Woods Syndrome |
|
Frontal hirsutism, Supernumerary nipple |
OMIM:615236 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Decreased response to growth hormone stimulation test, Breast hypoplasia, Frontal... |
ORPHA:506358 |
Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Supernumerary nipple, Thin eyebrow, Sparse or absent eyelashes, Sparse hair |
ORPHA:1433 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Supernumerary nipple |
OMIM:616083 |
Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Breast aplasia, Trichorrhexis nodosa, Aplasia/Hypoplasia of... |
ORPHA:238468 |
Ulnar-Mammary Syndrome |
|
Breast aplasia, Decreased fertility, Cryptorchidism, Hypoplastic nipples, Absent axillary hair |
ORPHA:3138 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia |
ORPHA:90153 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Breast aplasia |
ORPHA:276413 |
Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism |
ORPHA:570 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Absent nipple, Brittle hair, Absent hair |
OMIM:614940 |
Scalp-Ear-Nipple Syndrome |
|
Breast aplasia, Aplasia/Hypoplasia of the nipples, Sparse hair |
ORPHA:2036 |
Scalp-Ear-Nipple Syndrome |
|
Sparse pubic hair, Aplasia/Hypoplasia of the nipples, Fine hair, Breast aplasia, Sparse axillary ... |
OMIM:181270 |
Meier-Gorlin Syndrome 7 |
|
Breast aplasia, Thin eyebrow, Cryptorchidism |
OMIM:617063 |
Ear-Patella-Short Stature Syndrome |
|
Breast aplasia, Cryptorchidism |
ORPHA:2554 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Breast aplasia, Cryptorchidism, Chordee, P... |
ORPHA:268261 |