Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
breast cancer 1, early onset
Synonyms:
N/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 Brca1 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.

The table below shows human diseases associated to Brca1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Brca1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Cowden Syndrome 7
Trichilemmoma, Goiter, Hemangioma, Papillary thyroid carcinoma, Breast carcinoma, Intestinal poly... OMIM:616858
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Infertility OMIM:300719
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Brittle hai... OMIM:614602
Angioma, Tufted
Abnormality of skin pigmentation, Tufted angioma OMIM:607859
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Short stature, Freckling, Multiple cafe-au-l... ORPHA:241
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Carney Complex
Oligospermia, Thyroid carcinoma, Hirsutism, Sertoli cell neoplasm, Gonadal neoplasm, Neoplasm of ... ORPHA:1359
Young Syndrome
Azoospermia OMIM:279000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity OMIM:615703
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Neoplasm of the skin, Neoplasm ORPHA:315
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Dissecting Cellulitis Of The Scalp
Pruritus, Cellulitis, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Netherton Syndrome
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Failure to thriv... OMIM:256500
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Villous atrophy, Erythroderma, Failure to thrive, Alopecia, Hepatitis, Arthritis, Hypothy... OMIM:304790
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Trichothiodystrophy 1, Photosensitive
Fine hair, Keratoconjunctivitis sicca, Tiger tail banding, Small nail, Erythroderma, Small for ge... OMIM:601675
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Arthritis, Small for gestational age OMIM:613217
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Failure to thrive, Pruritus, Alopecia, Keratitis, Abnormality of the nail, Hypohidr... ORPHA:79394
Immunodeficiency 31C
Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Hypoth... OMIM:614162
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Failure to thrive in infancy, Villous atrophy, Patchy alopecia, ... OMIM:606367
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Villous atrophy, Pustule, Failure to thrive, Duodenitis, Paronychia, Onychogryposis... OMIM:614328
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Kerion Celsi
Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... ORPHA:1916
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyelashes, Erythroderma, Scarring alopecia of scalp, Absent eyelashes, Punctate keratitis,... OMIM:602540
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Caudal Duplication
Spinal cord lesion, Spina bifida, Myelomeningocele ORPHA:1756
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus OMIM:207950
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Hirsutism, Diffuse leiomyomatosis, Fibr... ORPHA:314478
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Generalized hypopigmentation, Hepatic fibrosis, Colitis, Small for... ORPHA:84064
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis, Sparse body hair ORPHA:85274
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Neoplasm, Irregular hyperpigme... ORPHA:2897
Sézary Syndrome
Neoplasm of the skin, Hepatomegaly, Erythroderma, Pruritus, Nail dystrophy, Alopecia, Lymphoma, C... ORPHA:3162
Netherton Syndrome
Fine hair, Eczema, Sparse eyelashes, Abnormal hair morphology, Erythroderma, Sparse scalp hair, T... ORPHA:634
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules, Bronchiectasis OMIM:619445
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Alopecia, Malabsorption, Lymphoma, Premature ov... ORPHA:100025
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Omenn Syndrome
Hepatomegaly, Erythroderma, Pneumonia, Failure to thrive, Pruritus, Alopecia, Lymphoma, Thyroidit... ORPHA:39041
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Neoplasm of the skin, Aganglionic megacolon, Abnormal eyebrow morphol... ORPHA:2885
Central Precocious Puberty
Abnormality of secondary sexual hair, Overgrowth, Hypothalamic hamartoma, Increased circulating g... ORPHA:759
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Pneumonia, Lymphoproliferative disorder, Br... OMIM:614700
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy, Failure to thrive OMIM:615863
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... ORPHA:145
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Ovarian Dysgenesis 2
Hirsutism, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogona... OMIM:300510
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Thick eyebrow OMIM:309585
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglo... ORPHA:2221
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism, Small for gestational age ORPHA:85288
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Congenital Disorder Of Glycosylation, Type Id
Small nail, High palate, Villous atrophy, Failure to thrive, Joint contracture of the hand, Arthr... OMIM:601110
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism, Premature ovarian insufficiency, Cryptorchidism... ORPHA:261483
Coffin-Siris Syndrome 8
Eczema, Failure to thrive, Long eyelashes, Hyperactivity, Thick eyebrow, Sparse scalp hair OMIM:618362
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure, P... OMIM:602579
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy OMIM:251850
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Alazami-Yuan Syndrome
Highly arched eyebrow, High palate, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivi... OMIM:617126
Chronic Actinic Dermatitis
Hypopigmented skin patches, Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma... ORPHA:330064
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Erythroderma, Joint contracture of the hand OMIM:616395
Bazex Syndrome
Atopic dermatitis, Eczema, Hyperpigmentation of the skin, Coarse hair, Basal cell carcinoma, Acne... OMIM:301845
Bathing Suit Ichthyosis
Erythroderma, Nail dystrophy, Alopecia, Hypohidrosis, Multiple joint contractures, Sparse hair ORPHA:100976
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l... ORPHA:99330
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Cryptorchidism OMIM:617796
Refractory Celiac Disease
Jejunitis, Inflammatory abnormality of the skin, Villous atrophy, Weight loss, Malabsorption, Lym... ORPHA:398063
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Pituitary hypothyroid... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Pituitary hypothyroid... ORPHA:71526
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Scarring, Scarring alopecia of scalp, Recurrent skin infection... ORPHA:346
47,Xyy Syndrome
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... ORPHA:8
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Congenital Tufting Enteropathy
Villous atrophy, Failure to thrive, Weight loss, Malabsorption, Arthritis, Anal atresia, Abnormal... ORPHA:92050
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Failure to thrive, Alopecia, Cirrhosis, Fragile nails, Conjunctivitis OMIM:242150
Pachydermoperiostosis
Neoplasm of the skin, Eczematoid dermatitis, Neoplasm of the lung, Hepatomegaly, Peptic ulcer, Se... ORPHA:2796
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Spars... ORPHA:754
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Erythroderma OMIM:618840
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Hypospadias, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Nail dystrophy, Alopecia, Nail dysplasia, Flexion contracture, Sparse hair OMIM:242300
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Carcinoma Of Esophagus
Barrett esophagus, Obesity, Weight loss, Esophageal neoplasm ORPHA:70482
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Esophageal carcinoma ORPHA:99976
Ichthyosis With Confetti
Erythroderma, Hypertrichosis OMIM:609165
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Aganglionic megacolon, Erythroderma, Nail dystrophy, Alopecia, Absent eyebrow, Abse... OMIM:308205
Verrucous Hemangioma
Hemangioma, Inflammatory abnormality of the skin, Papilloma ORPHA:464318
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Villous atrophy, Skin rash, Enterocolitis OMIM:616050
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Infertility OMIM:268040
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Ovarian fibro... ORPHA:314473
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... ORPHA:261519
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin, Neoplasm OMIM:600630
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Villous atrophy, Biliary tract abnormality, Failure to thri... OMIM:209920
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Alopecia of scalp, Erythroderma, Pruritus, Hyperpigmentation of the skin OMIM:608649
Omenn Syndrome
Hepatomegaly, Erythroderma, Pneumonia, Failure to thrive, Hypoplasia of the thymus, Alopecia OMIM:603554
Trichohepatoenteric Syndrome 1
Fine hair, Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Failure to... OMIM:222470
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... OMIM:145250
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Villous atrophy, Erythroderma, Oligoarthritis OMIM:619510
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia ORPHA:1445
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Amed Syndrome, Digenic
Failure to thrive, Acute myeloid leukemia, Myelodysplasia, Hypoplasia of the uterus OMIM:619151
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of the skin, Ataxia, Hypopigmentation of hair, Pr... ORPHA:33445
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Large for gestational age OMIM:248100
Erythrokeratodermia Variabilis
Neoplasm of the skin, Abnormal hair morphology, Weight loss, Alopecia, Abnormal testis morphology... ORPHA:317
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Cry... ORPHA:10
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Aganglionic megacolon, Abnormality of retinal pigmentation, Abnorm... ORPHA:897
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Neoplasm of the skin, Cutaneous melanoma, Rhabdomyosarcoma, Abnormali... ORPHA:626
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Pruritus, Abnormality of the nail, Aplasia/Hypoplasia of the ... ORPHA:313
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Gastroesophageal reflux, Hirsutism OMIM:300434
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... OMIM:612964
Classic Mycosis Fungoides
Hypopigmented skin patches, Neoplasm of the skin, Eczema, Hepatomegaly, Pruritus, Alopecia, Lymph... ORPHA:2584
Premature Ovarian Failure 8
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615723
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Piebaldism
Hypopigmented skin patches, Neoplasm of the skin, Aganglionic megacolon, Piebaldism, White eyelas... ORPHA:2884
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Abnormality of skin pigmentation, Nail dystrophy, Alopecia, Spar... OMIM:616353
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, Micropenis, External genital hypoplasia OMIM:615983
Ataxia-Telangiectasia
Gait disturbance, Failure to thrive, Polycystic ovaries, Neoplasm, Abnormal testis morphology, At... ORPHA:100
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, High palate, Frontal upsweep of hair OMIM:300983
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Spotty hyperpigmentation, Macul... ORPHA:79147
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia ORPHA:1759
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, High palate, Bronchiectasis, Pruritus, Alopecia, Recurrent otitis medi... OMIM:618282
Immunodeficiency 61
Obesity, Colon cancer OMIM:300310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Nail dystrophy, Alopecia, Gastrointestinal carcinoma, Malabsorption, Hyperp... OMIM:175500
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, High palate, Erythroderma, Coarse hair, Sparse eyebrow, Abnormal hair pattern, ... ORPHA:35173
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Cholestasis, Adrenocorticotropic hormone deficien... OMIM:609734
Copper Deficiency, Familial Benign
Early balding, Curly hair, Seborrheic dermatitis, Failure to thrive OMIM:121270
Familial Melanoma
Neoplasm of the breast, Neoplasm of the stomach, Abnormal hair morphology, Freckling, Neoplasm of... ORPHA:618
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... OMIM:300845
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... ORPHA:361
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Carney Complex, Type 1
Thyroid follicular hyperplasia, Cardiac myxoma, Thyroid carcinoma, Hirsutism, Freckling, Myxoid s... OMIM:160980
Immunodeficiency 58
Dysphagia, Eczema, Allergic rhinitis, Helicobacter pylori infection, Recurrent cutaneous abscess ... OMIM:618131
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Portal fibrosis, He... OMIM:619377
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hirsutism, Frontal balding, Hypoplasia of t... ORPHA:247768
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Aganglionic megacolon, White forelock, Heterochromia iridis, Hypopigm... ORPHA:895
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Rubinstein-Taybi Syndrome 2
High palate, Hirsutism, Long eyelashes, Intestinal malrotation, Hyperactivity, Narrow palate OMIM:613684
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Monosomy 22
High palate, Meningioma, Gonadal neoplasm, Seborrheic dermatitis, Aplasia of the thymus, Sarcoma,... ORPHA:96123
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait, Obe... ORPHA:411515
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Erythroderma, Pruritus, Abnormality of the liver, Myeloproliferative disorder, Gast... ORPHA:79456
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Verrucae, Recurrent skin infections, ... ORPHA:302
N Syndrome
Abnormality of chromosome stability OMIM:310465
Proprotein Convertase 1/3 Deficiency
Obesity, Villous atrophy, Malabsorption, Decreased circulating cortisol level OMIM:600955
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Phenylketonuria
Blue irides, Eczema, Hyperactivity, Attention deficit hyperactivity disorder, Generalized hypopig... OMIM:261600
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, External genital hypoplasia OMIM:605231
Xeroderma Pigmentosum Variant
Hyperpigmentation of the skin, Basal cell carcinoma, Hypopigmentation of the skin, Squamous cell ... ORPHA:90342
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Eczema, Xerostomia, Failure to thrive, Breast aplasia, Gen... ORPHA:238468
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Failure to thrive, Decreased liver function, Ataxia, Inability to walk, Hepatic steato... ORPHA:70472
Meckel Diverticulum
Meckel diverticulum OMIM:155140
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis medi... ORPHA:47
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Eczema, Hypertrichosis, Hepatic fibrosis OMIM:176090
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycystic ovaries OMIM:184700
Congenital Lethal Erythroderma
Failure to thrive, Congenital exfoliative erythroderma, Malabsorption ORPHA:1954
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Profuse pigmented skin lesions, Erythroderma ORPHA:280785
Humero-Radial Synostosis
Meningocele ORPHA:3265
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Wildervanck Syndrome
Meningocele ORPHA:3456
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema, Abnormality of skin pigmentation, Hypohidrosis, Abnormal fingernail morphology, Sparse ha... ORPHA:1810
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... ORPHA:391487
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Thick eyebrow, Generalized hirsutism ORPHA:2222
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Alg9-Cdg
Omphalocele, Hepatomegaly, Hypertrichosis, Hypoplastic nipples, Villous atrophy, Torticollis, Hep... ORPHA:79328
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Neoplasm of the skin, Hypertrichosis, Pustule, Chronic furunculosis, ... ORPHA:678
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Eczema, Umbilical hernia, Small for gestational age, Arthrogryposis multip... ORPHA:352490
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Hepatosplenomegaly, Alopecia, Erythroderma ORPHA:169154
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, White eyelashes, White forelock, ... OMIM:277580
Elejalde Disease
Silver-gray hair, Hypopigmentation of the skin, Ataxia, Accumulation of melanosomes in melanocyte... OMIM:256710
46,Xy Sex Reversal 11
Vanishing testis, Gonadal dysgenesis with female appearance, male, Aplasia of the uterus, Elevate... OMIM:273250
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Bilia... ORPHA:567983
Biotinidase Deficiency
Lethargy, Hepatomegaly, Seborrheic dermatitis, Alopecia, Ataxia, Recurrent skin infections, Skin ... OMIM:253260
Microvillus Inclusion Disease
Pruritus, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Perrault Syndrome 4
Disproportionate tall stature, Hypoplasia of the ovary, Increased circulating gonadotropin level,... OMIM:615300
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Highly arched eyebrow, Decreased body weight, High palate OMIM:618342
Trichothiodystrophy
Eczema, Brittle hair, Fragile nails, Congenital exfoliative erythroderma, Umbilical hernia, Conju... ORPHA:33364
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, Aganglionic megacolon, White eyelashes, White forelock, ... OMIM:613265
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the ovary, Neoplasm of the oral cavity ORPHA:543
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation OMIM:609054
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Congenital hypothyroidism, Hyperactivity, Obesity, Cryptorchidism, Fair hair, Red hair OMIM:614613
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Nail dysplasia, Hypohidrosis, Erysipelas OMIM:615704
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Pachyonychia Congenita 2
Dry hair, Steatocystoma multiplex, Subungual hyperkeratosis, Folliculitis, Nail dystrophy, Sparse... OMIM:167210
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Hydrocephalus, Spin... ORPHA:1908
Scleroderma
Myocarditis, Fasciitis, Abnormal stomach morphology, Uveitis, Intestinal bleeding, Barrett esopha... ORPHA:801
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... ORPHA:2232
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Periventricular heterotopia OMIM:300624
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Pili Torti-Onychodysplasia Syndrome
Keloids, Cleft palate, Eczema, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eye... ORPHA:2890
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Neoplasm of the breast, Goiter, Alopecia, Polycystic ovaries, Neoplasm... ORPHA:457059
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Erythroderma, Failure to thrive, Alopecia, Sparse and thin eyebrow, Sparse hair OMIM:302960
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Sparse hair, Erythroderma, Recurrent skin infections OMIM:615508
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss, Erythroderma ORPHA:312
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, High palate, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys OMIM:617773
Mismatch Repair Cancer Syndrome 3
Astrocytoma, Neoplasm of the rectum, Glioblastoma multiforme, Lisch nodules, Lymphoma, Axillary f... OMIM:619097
Cortisone Reductase Deficiency 1
Obesity, Hirsutism, Precocious puberty OMIM:604931
Vascular Hyalinosis
Chorioretinal scar, Premature graying of hair, Malabsorption, Protein-losing enteropathy, Hematoc... OMIM:277175
Chromosome Xq25 Duplication Syndrome
Thick eyebrow, Highly arched eyebrow, Hyperactivity, Sparse eyebrow OMIM:300979
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism, Abnormal testis morphology, Low posterior hairline, Abnormal hair quantity ORPHA:2233
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Watson Syndrome
Short stature, Lisch nodules, Axillary freckling, Multiple cafe-au-lait spots, Neurofibromas OMIM:193520
Ring Chromosome 12 Syndrome
High, narrow palate, Hirsutism, Uterine leiomyoma, Dystrophic toenail, Hemangioma, Small for gest... ORPHA:1439
Lipoid Proteinosis
Dystonia, Dysphagia, High palate, Alopecia of scalp, Scarring, Pustule, Verrucae, Tongue nodules,... ORPHA:530
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Premature ovarian insufficiency OMIM:618124
Fanconi Anemia, Complementation Group L
Chromosome breakage, Intrauterine growth retardation, Hydrocephalus, Abnormality of chromosome st... OMIM:614083
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Meckel Syndrome, Type 2
Meningocele, Intrauterine growth retardation, Anencephaly OMIM:603194
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Alopecia, Failure to thrive, Lethargy OMIM:210210
Systemic Sclerosis
Myocarditis, Abnormal stomach morphology, Intestinal bleeding, Barrett esophagus, Pericarditis, O... ORPHA:90291
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Basal cell carcinoma, Squamous cell carcinoma of ... ORPHA:79434
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Iniencephaly
Myelomeningocele, Anencephaly, Holoprosencephaly, Syringomyelia, Spina bifida, Hydrocephalus, Spi... ORPHA:63259
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Patent ductus arteriosus, Decreased liver function, Cholestasis,... OMIM:608104
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Abnormality of skin pigmentation, Nail dystrophy, Scarring alopecia of scalp, Spars... ORPHA:79402
Immunodeficiency 54
Chromosome breakage, Intrauterine growth retardation OMIM:609981
Oculocutaneous Albinism
Cutaneous melanoma, Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, Whit... ORPHA:55
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Reduced intraabdomi... ORPHA:363400
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... ORPHA:169160
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Spina bifida ORPHA:1393
Piebald Trait
Aganglionic megacolon, Partial albinism, Piebaldism, Neoplasm, White forelock, Heterochromia irid... OMIM:172800
Pten Hamartoma Tumor Syndrome
Thyroid carcinoma, Freckling, Endometrial carcinoma, Hemangioma, Renal cell carcinoma, Multinodul... ORPHA:306498
Hyperostosis Frontalis Interna
Obesity, Hypertrichosis, Increased circulating prolactin concentration OMIM:144800
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Absent pubic hair, Cryptorchi... OMIM:614841
Bloom Syndrome
Type II diabetes mellitus, Small for gestational age, Azoospermia, Cryptorchidism, Decreased fert... OMIM:210900
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... ORPHA:268810
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Ataxia, Erythroderma, Flexion contracture OMIM:609180
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Xq25 Microduplication Syndrome
Hyperactivity, Highly arched eyebrow, Sparse eyebrow ORPHA:521258
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Myelomeningocele OMIM:613686
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Gait disturbance, Lactose intolerance, Hypopigmented skin patches, Hemangioma, ... ORPHA:457485
Bone Marrow Failure Syndrome 3
Eczema, Small nail, Abnormality of skin pigmentation, Failure to thrive, Nail dystrophy, Hernia, ... OMIM:617052
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Eunuchoid h... ORPHA:91
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele ORPHA:101030
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia OMIM:615982
Gand Syndrome
Hyperactivity, Sparse hair OMIM:615074
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Hyperactivity, Thick eyebrow, Broad-based gait, Unsteady gait, Gastroesophagea... OMIM:617865
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Satoyoshi Syndrome
Abnormality of the ovary, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy, Squamous cell carcinoma OMIM:613988
Oculocutaneous Albinism Type 4
Neoplasm of the skin, Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism,... ORPHA:79435
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Increased circulating gonadotropin level, Breast hypoplasia, Enlarged p... ORPHA:785
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation OMIM:605724
Oculocutaneous Albinism Type 1
Blue irides, Neoplasm of the skin, Generalized hypopigmentation, Actinic keratosis, Iris transill... ORPHA:352731
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Infectious encephalitis, Erythroderma, Cholestatic liver disease, Decreased liver f... ORPHA:540
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... ORPHA:300298
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Pemphigus Foliaceus
Neoplasm of the skin, Psoriasiform dermatitis, Pustule, Erythroderma, Pruritus, Hematological neo... ORPHA:79481
Oculocutaneous Albinism Type 2
Cutaneous melanoma, Absent skin pigmentation, Abnormality of retinal pigmentation, Blue irides, H... ORPHA:79432
Graves Disease, Susceptibility To, 1
Goiter, Onycholysis, Weight loss, Hyperactivity, Hyperhidrosis, Graves disease OMIM:275000
Ovarian Dysgenesis 9
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619665
Premature Ovarian Failure 6
Elevated circulating follicle stimulating hormone level, Streak ovary, Premature ovarian insuffic... OMIM:612310
Pseudopelade Of Brocq
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... ORPHA:129
Erythroderma, Lethal Congenital
Failure to thrive, Congenital exfoliative erythroderma OMIM:227090
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Dysphagia, Eczema, Myelodysplasia, Erythroderm... ORPHA:3260
Corneodermatoosseous Syndrome
Hypomature dental enamel, Erythroderma, Onycholysis OMIM:122440
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Coffin-Siris Syndrome 7
Hypoplastic fifth toenail, Recurrent otitis media, Hyperactivity, Thick eyebrow, Sparse scalp hair OMIM:618027
Premature Ovarian Failure 18
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619203
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Obesity, Crypto... ORPHA:96263
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Hydrocephalus, Abnormality of chromosome stability, Patent ductu... OMIM:300514
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, External genital hypoplasia OMIM:615996
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Synophrys OMIM:615541
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Mehmo Syndrome
External genital hypoplasia, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis ORPHA:85282
Whim Syndrome
Cutaneous melanoma, Sinusitis, Abnormality of the small intestine, Cervix cancer, Pneumonia, Bron... ORPHA:51636
Classic Phenylketonuria
Eczema, Attention deficit hyperactivity disorder, Hypopigmentation of hair, Hypopigmentation of t... ORPHA:79254
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Werner Syndrome
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Slender build, Neopl... ORPHA:902
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Hirsutism, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Pneumonia, Cholesteatoma, Bronchiectasis, Weight loss, Hepatitis... OMIM:619381
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Cronkhite-Canada Syndrome
Stomach cancer, Generalized hyperpigmentation, Dystrophic toenail, Abnormality of skin pigmentati... ORPHA:2930
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Generalized hypopigmentation of... ORPHA:3322
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... ORPHA:37042
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Meckel Syndrome, Type 4
Meningocele, Intrauterine growth retardation, Anencephaly, Hydrocephalus OMIM:611134
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, White forelock, Heterochromia iridis, White eyebrow,... OMIM:193510
Trigonocephaly 1
Omphalocele, Meckel diverticulum, Synophrys OMIM:190440
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Micropenis, Decreased testicular size OMIM:614962
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism OMIM:617660
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Villous atrophy, Hodgkin lymphoma, Small for gestational age, Increas... OMIM:619573
Fanconi Anemia, Complementation Group E
Small for gestational age, Leukemia, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogona... OMIM:600901
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Absence of ... ORPHA:90156
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Kid Syndrome
Trichilemmoma, Neoplasm of the skin, Sparse eyelashes, Acne inversa, Sparse hair, Conjunctivitis,... ORPHA:477
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Basal cell carcinoma, Squamous cell carcinoma of the skin, Albinism, ... ORPHA:79431
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Waardenburg Syndrome
Hypopigmented skin patches, Aganglionic megacolon, Abnormality of skin pigmentation, Abnormal eye... ORPHA:3440
Fanconi Anemia, Complementation Group A
Small for gestational age, Leukemia, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogona... OMIM:227650
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Kennerknecht Syndrome
Agonadism, Hypoplasia of the uterus, Long eyelashes, Abdominal obesity OMIM:600908
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Dorsocervical fat pad, Alopecia, Increa... OMIM:615830
Angelman Syndrome Due To A Point Mutation
Dysphagia, Gait imbalance, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broad-bas... ORPHA:411511
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
8P11.2 Deletion Syndrome
Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Hypog... ORPHA:251066
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys ORPHA:3411
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia