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
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Infertility OMIM:300719
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Angioma, Tufted
Abnormality of skin pigmentation, Tufted angioma OMIM:607859
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Dyschromatosis Universalis Hereditaria
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... ORPHA:241
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Chronic hepatitis, Coliti... OMIM:614602
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Neoplasm, Neoplasm of the skin ORPHA:315
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Netherton Syndrome
Sparse scalp hair, Villous atrophy, Brittle hair, Recurrent skin infections, Allergic rhinitis, E... OMIM:256500
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive OMIM:613217
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Glomerulonephritis, Eczema, Ileus, Hepatitis, Arthritis, Erythroderma,... OMIM:304790
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... ORPHA:206484
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive, Abnormality of the ... ORPHA:79394
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, O... OMIM:614328
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Eryt... OMIM:606367
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Small for gestational age, Trichoschisis, Malabsorption, Fl... OMIM:601675
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Ichthyosis With Confetti
Pruritus, Erythroderma, Hypoplastic nipples, Decreased body weight, Hypertrichosis OMIM:609165
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, S... OMIM:618362
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Gastritis, Hepat... ORPHA:84064
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Neoplasm, Erythroderma, Irregular hyperpigme... ORPHA:2897
Joubert Syndrome 15
Exencephaly OMIM:614464
Sézary Syndrome
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Pruritus, Lymphoma, Nail dystrophy, Neoplasm o... ORPHA:3162
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal h... ORPHA:634
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules OMIM:619445
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Pruritus, Lymphoma, Thyroiditis, Erythroderma, Failure to thri... ORPHA:39041
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... ORPHA:71526
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, R... OMIM:614700
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Agitation, Erythroderma OMIM:618840
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Erythroderma OMIM:270300
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology... ORPHA:1916
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Ovarian neoplasm, ... ORPHA:2221
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Hirsutism ORPHA:85288
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,... ORPHA:330064
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Flexion contracture, Joint contracture of the hand, High palate, Nail dysplasia,... OMIM:601110
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti... ORPHA:398063
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity ORPHA:99976
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Alopecia, Malabsorption, Lymphoma ORPHA:100025
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Fur... OMIM:301845
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Osteomyelitis, Acne, Abnormal ... ORPHA:2796
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... OMIM:607624
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Hypohidrosis, Nail dystrophy, Erythroderma, Sparse hair ORPHA:100976
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Failure to thrive, Skin rash, Enterocolitis OMIM:616050
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Abnormal hair morpholog... ORPHA:346
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity, Thick eyebrow OMIM:309585
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Central Precocious Puberty In Male
Astrocytoma, Acne, Abnormality of the testis size, Craniopharyngioma, Aggressive behavior, Pituit... ORPHA:649929
Alazami-Yuan Syndrome
Thick eyebrow, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... OMIM:617126
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ne... OMIM:194072
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair OMIM:242300
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Uv-Sensitive Syndrome 1
Freckling, Neoplasm, Pigmentation anomalies of sun-exposed skin OMIM:600630
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Conjunctivitis, Cirrhosis, Erythroderma, Sparse hair, Fa... OMIM:242150
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Trichohepatoenteric Syndrome 1
Curly hair, Hepatomegaly, Brittle hair, Small for gestational age, Villous atrophy, Jaundice, Cho... OMIM:222470
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Erythroderma, Alopecia of scalp, Hyperpigmentation of the skin OMIM:608649
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Gastroesophageal reflux, Hirsutism, Bruxism OMIM:300434
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Oligoarthritis, Erythroderma OMIM:619510
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Steatorrhea, Hepatic fibrosis, Protein-losing enteropathy, Cirrhos... OMIM:602579
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive, Acute myeloid leukemia, Myelodysplasia OMIM:619151
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hypopigmented skin patches, Abnormality of ... ORPHA:626
Lamellar Ichthyosis
Pruritus, Sparse hair, Erythroderma, Chronic otitis media, Abnormality of the nail, Aplasia/Hypop... ORPHA:313
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... ORPHA:897
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis OMIM:121270
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Phenylketonuria
Hyperactivity, Eczema, Aggressive behavior, Blue irides, Compulsive behaviors, Attention deficit ... OMIM:261600
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Immunodeficiency 31C
Hepatomegaly, Villous atrophy, Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous candi... OMIM:614162
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Functional abnorm... ORPHA:90362
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Hypoplasia of the uterus, Facial hirsutism, H... ORPHA:247768
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Complete Androgen Insensitivity Syndrome
Tall stature, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level,... ORPHA:99429
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele ORPHA:1759
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Schwannoma, Hepatosplenomegaly, Hyperhid... ORPHA:96123
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Polyphagia, Obesity, Inappropriate laughter, Hypopigment... ORPHA:411515
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, P... OMIM:175500
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Pruritus, Microves... OMIM:619377
Acrodysplasia Scoliosis
Spina bifida occulta ORPHA:2956
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Pruritu... ORPHA:79456
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
N Syndrome
Abnormality of chromosome stability OMIM:310465
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Small for gest... OMIM:557000
Obesity And Hypopigmentation
Red hair, Polyphagia, Hepatic steatosis, Obesity OMIM:620195
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Squamous c... ORPHA:302
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Cholestasis, Hematochezia, In... OMIM:615895
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Hypopigme... ORPHA:90342
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Hypohidrosis, Aplasia/H... ORPHA:238468
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Malabsorption, Obesity, Villous atrophy OMIM:600955
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Wildervanck Syndrome
Meningocele ORPHA:3456
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... ORPHA:63259
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Malabsorption ORPHA:1954
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Profuse pigmented skin lesions, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... ORPHA:2884
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Villous atrophy, Ecz... ORPHA:391487
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Hirsutism OMIM:184700
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Obesity, Polyphagia, Iris hypopigmentation ORPHA:177910
Burkitt Lymphoma
Neoplasm of the oral cavity, Abnormality of the liver, Abnormality of the ovary ORPHA:543
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Hypothyroidism, Abnor... OMIM:212065
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Polycystic ovaries, Premature graying of... ORPHA:100
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Malabsorpti... ORPHA:47
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Alopecia, Failure to thrive, Erythroderma ORPHA:169154
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:609054
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Low posterior hairline, Aplasia/hypoplasia of the uterus ORPHA:2578
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair,... OMIM:300406
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Humero-Radial Synostosis
Meningocele ORPHA:3265
Familial Melanoma
Neoplasm of the pancreas, Abnormal hair morphology, Melanoma, Neoplasm of the breast, Freckling ORPHA:618
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism OMIM:300510
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly... ORPHA:169160
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Hypoplasia of the thymus, Erythroderma, Failure to thrive OMIM:603554
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Alg9-Cdg
Omphalocele, Hepatomegaly, Villous atrophy, Lipodystrophy, Low posterior hairline, Periportal fib... ORPHA:79328
Microvillus Inclusion Disease
Pruritus, Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Chylomicron Retention Disease
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age OMIM:601820
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Gona... OMIM:612964
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Conjunctival hamartoma, Erythroderma ORPHA:312
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... ORPHA:678
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, B-cel... OMIM:619381
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Sparse ha... OMIM:618535
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism OMIM:604931
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure t... ORPHA:70472
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, High... ORPHA:33364
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T... ORPHA:2890
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, Red hair, Fair hair OMIM:614613
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Periventricular heterotopia OMIM:300624
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... OMIM:600145
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Steatoc... OMIM:167210
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay, Nail dystrophy, Spars... ORPHA:79402
Immunodeficiency 54
Intrauterine growth retardation, Chromosome breakage OMIM:609981
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmo... ORPHA:247353
Satoyoshi Syndrome
Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia of the... ORPHA:3130
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Hypoplasia of the uterus, Disproportionate tal... OMIM:615300
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Melan... ORPHA:79434
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Failure to thrive OMIM:302960
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage OMIM:613390
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Ne... OMIM:172800
Graves Disease, Susceptibility To, 1
Hyperactivity, Increased circulating free T4 concentration, Increased circulating free T3, Weight... OMIM:275000
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Classic Phenylketonuria
Hypopigmentation of hair, Eczema, Self-injurious behavior, Attention deficit hyperactivity disord... ORPHA:79254
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Non-Hodgkin lymphoma, Rhabdo... OMIM:276300
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Pemphigus Foliaceus
Psoriasiform dermatitis, Hematological neoplasm, Pruritus, Pustule, Crusting erythematous dermati... ORPHA:79481
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:605724
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Obesity, Low posterior hairline, Hypogonadism, Abnormal testis morphology ORPHA:2233
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Ring Chromosome 12 Syndrome
Small for gestational age, Acne, Cryptorchidism, High, narrow palate, Hirsutism, Uterine leiomyom... ORPHA:1439
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop... OMIM:614841
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity,... ORPHA:411511
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Obesity, Low posterior ha... ORPHA:2183
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Oculocutaneous Albinism Type 1
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis OMIM:253260
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Jaundice, Choles... ORPHA:540
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Eczema, Cholangitis, Myelody... ORPHA:3260
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Vascular Hyalinosis
Malabsorption, Premature graying of hair, Hematochezia, Protein-losing enteropathy, Chorioretinal... OMIM:277175
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Elevated ... OMIM:619573
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... ORPHA:90291
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Patent ductus arteriosus, Hydrocephalus, Abnormality of chromoso... OMIM:300514
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Self-... OMIM:600430
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism OMIM:617660
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Lactose intolerance, Large for gestational age, Cryptorchidism, Hypopi... ORPHA:457485
Self-Improving Dystrophic Epidermolysis Bullosa
Squamous cell carcinoma, Abnormality of skin pigmentation, Growth delay, Basal cell carcinoma, Na... ORPHA:79411
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Neoplasm, Nail dystr... ORPHA:3322
Normosmic Congenital Hypogonadotropic Hypogonadism
Wide intermamillary distance, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive... ORPHA:432
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Protruding tongue, Tongue thru... ORPHA:98794
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, F... OMIM:162210
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Hypothyroidism, Alopecia, Psoriasiform dermatiti... ORPHA:37042
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Aggressive behavior, High, narrow... ORPHA:369950
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... ORPHA:2211
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Seborrheic dermatitis OMIM:210210
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79431
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... ORPHA:3440
46,Xx Sex Reversal 1
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:400045
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Leptin Deficiency Or Dysfunction
Micropenis, Hypogonadism, Decreased testicular size, Obesity OMIM:614962
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of ... OMIM:600901
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Glabellar hemangioma, Clitoral hypoplasia, Labial ... OMIM:164745
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... ORPHA:90156
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Glossitis, Anorexia, Malabsorption, Pustule, ... ORPHA:37
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Transketolase Deficiency
Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Self-injurious behavior, ... ORPHA:488618
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Abnormal dental enamel m... ORPHA:79430
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Fanconi Anemia, Complementation Group A
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of ... OMIM:227650
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Dyskeratosis Congenita
White hair, Anorectal anomaly, Hyperhidrosis, Premature graying of hair, Neoplasm, Periodontitis,... ORPHA:1775
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Obesity, Hypogonadism, Sparse body hair, D... ORPHA:2234
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk... OMIM:308205
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Donnai-Barrow Syndrome
Widow's peak, Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Hypohidrosis, Onycholysis, Seborrheic dermatitis OMIM:104570
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Synophrys, Coarse hair, Hernia, Dysphagia, Hirsutism, Hypertrichosis OMIM:252930
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Eczema, S... ORPHA:83617
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Trisomy 18
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Inguinal hernia, Fair hair, Eczema, Hyperpigmented/hypopigmented macules, Cryptorchid... OMIM:620331
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Dyskeratosis Congenita, Digenic
Alopecia, Short stature, Sparse eyelashes, Abnormality of skin pigmentation, Basal cell carcinoma... OMIM:620040
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Flexion contracture, Erythroderma OMIM:609180
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... ORPHA:201
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia, Abnormality of chromosome stability ORPHA:2268
Harlequin Ichthyosis