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Gene: Fanci MGI:2384790

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Gene Summary

Name:
Fanconi anemia, complementation group I
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Fancitm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

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.

Legacy Phenotype Associated Images
Fancitm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Fancitm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Fancitm1a(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Fancitm1a(EUCOMM)Wtsi
abnormal craniofacial development, abnormal eye development, HOM, Unsexed, WTSI
Fancitm1a(EUCOMM)Wtsi
abnormal craniofacial development, abnormal eye development, HOM, Unsexed, WTSI

View all 6 images

Fancitm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Fancitm1a(EUCOMM)Wtsi
abnormal retinal blood vessel pattern, HET, Female, WTSI
Fancitm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Fancitm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI

Human diseases caused by Fanci 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 Fanci by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Short 1st metacarpal, Short thumb, Absent thumb, Decreased response ... OMIM:609053
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 17
Male infertility OMIM:617214
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
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
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Deleted in azoospermia
Azoospermia OMIM:400003
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Fanconi Anemia, Complementation Group S
Chromosome breakage, Dental malocclusion, Clinodactyly, Failure to thrive, Thick upper lip vermil... OMIM:617883
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myelo... OMIM:616435
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality... ORPHA:1617
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Obesity, Polydactyly, Macular dystrophy, Brachydactyly... OMIM:615983
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Bone Marrow Failure Syndrome 3
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul... OMIM:617052
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Malar f... OMIM:616108
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5... ORPHA:71289
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Male infert... OMIM:227650
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microphthalmia, Abnormal thumb morphology, Anemia, Thrombocy... OMIM:614082
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Bridged... ORPHA:99330
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia OMIM:233270
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna... ORPHA:10
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Pancytopeni... OMIM:600901
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Coloboma, Delayed pub... ORPHA:141333
Alpha-Mannosidosis
Craniofacial hyperostosis, Cataract, Dental malocclusion, Widely spaced teeth, Open bite, Gingiva... ORPHA:61
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Bloom Syndrome
Chromosome breakage, Decreased circulating IgG level, Abnormality of chromosome stability, Elevat... OMIM:210900
Fanconi Anemia, Complementation Group O
Chromosome breakage, Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Neon... OMIM:613390
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Pancytopenia, Micrognathia, Cryptorchidism, High palate, D... OMIM:210600
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Retinopathy, Polydactyly OMIM:615988
Young Syndrome
Azoospermia OMIM:279000
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
48,Xyyy Syndrome
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Azoospermia, Radioulnar synostosis, ... ORPHA:99329
Acrootoocular Syndrome
Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate... ORPHA:2980
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Retrognathia, Hypogonadism, Narrow mouth, Microphthalmia, High palate ORPHA:2528
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Hypogonadism, Abnormal dental morphology, Obesity, Cryptorchidism, Micropenis,... ORPHA:85274
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th finger, Short 5th toe, Short 4th toe, Failure to thrive, Decreased body weight, Chromos... OMIM:619060
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Absent th... OMIM:227645
Progeria-Short Stature-Pigmented Nevi Syndrome
Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Premature ovarian insuffici... ORPHA:2959
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... OMIM:101800
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Absent thumb, Short thumb, Microphallus, Failure to thrive, Decrease... OMIM:603467
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Microcornea, Toe syndactyly, Dental malocclusion, Short toe, Down... ORPHA:1327
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Obesity, Short 4th metacarpal, Cubitus valgus, Abnormality of t... ORPHA:2183
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ectopia pupillae, Cone/cone-rod dystrophy, Microphthalmia, Hypoplastic inferior ilia, Short metac... OMIM:608940
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Bilateral single transverse palmar creases, Abnorma... ORPHA:2471
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Conical tooth, Cataract, Dental malocclusion, Sandal gap, Broad hallux, Clinodacty... OMIM:618727
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Short thumb, Failure to thrive... OMIM:605724
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Short 1st metacarpal, Short thumb, Absent thumb, Decreased response ... OMIM:609053
Cofs Syndrome
Optic atrophy, Cataract, Camptodactyly of finger, Hypogonadism, Micrognathia, Abnormality of reti... ORPHA:1466
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Increased circ... ORPHA:1858
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Short thumb, Mi... OMIM:609054
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Joint contracture of the hand, Broad femoral neck, Dental malocclusion, Flared metap... OMIM:612350
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Pierpont Syndrome
Cryptorchidism, Decreased body weight, Everted lower lip vermilion, Microphthalmia, Short foot, M... OMIM:602342
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism,... OMIM:615982
Muenke Syndrome
Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of toe, Radial deviation of ... OMIM:602849
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Astigmatism, Single t... OMIM:253250
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Polydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Neutropenia, Microphthalmia, Absent radius, Leukemia, Patent ductus... OMIM:227646
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96263
Pierpont Syndrome
Microcornea, Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wr... ORPHA:487825
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Long fingers, High palate, Mandibular prognathia, Tapered finger OMIM:618292
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... ORPHA:432
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Diastema, Micrognathia, Malar flattening, Juvenile cataract, Brachydactyly, ... ORPHA:436245
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Chromos... OMIM:617244
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Azoospermia, Decreased circulating antibody level, Narrow palm, Amenorr... ORPHA:1445
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency,... OMIM:609981
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea OMIM:614858
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir... OMIM:601957
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Fragile X Syndrome
Mandibular prognathia, Metacarpophalangeal joint hyperextensibility, Macroorchidism, postpubertal... OMIM:300624
Bardet-Biedl Syndrome 7
Clinodactyly, Hypogonadism, Obesity, Narrow mouth, Malar flattening, Polydactyly, 2-3 toe syndact... OMIM:615984
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Retinal detachment, Microphthalmia, Iris c... ORPHA:2712
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Hypospadias, Dental malocclusion, Widely spaced teeth, Cryptorchi... OMIM:619293
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinovarus, Bilater... ORPHA:251028
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Cryptorchidism, Oligodontia, Thin upp... OMIM:616331
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Craniosynostosis 3
Hallux valgus, Dental malocclusion, Brachydactyly, Single transverse palmar crease OMIM:615314
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Micrognathia, Retinopathy, Talipes equinovarus, Macular atr... OMIM:616171
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Clinodactyly, Coloboma, Brachydactyly, Ocular anterior segment dysgenesis, Microp... OMIM:610023
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Mmep Syndrome
Cryptorchidism, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Man... ORPHA:3434
Cri-Du-Chat Syndrome
Bifid uvula, Optic atrophy, Microretrognathia, Cataract, Downturned corners of mouth, Small for g... OMIM:123450
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Xq27.3Q28 Duplication Syndrome
Small hand, Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal o... ORPHA:261483
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis, Coloboma, Microphthalmia OMIM:613094
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Failure to thrive, Overlapping toe, Micrognathia, Narrow mouth, Crypt... OMIM:600118
Takenouchi-Kosaki Syndrome
Optic atrophy, Hypospadias, Dental malocclusion, Clinodactyly, Downturned corners of mouth, Long ... OMIM:616737
Otodental Syndrome
Abnormality of canine, Cataract, Abnormal dental pulp morphology, Carious teeth, Periodontitis, A... ORPHA:2791
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Small hand, Elevated circulating luteinizing hormone level, Retrognathia, Long philtrum... OMIM:300845
Short Syndrome
Cataract, Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodactyly, Downt... OMIM:269880
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Cataract, Dental malocclusion, Bifid scrotum, Thick lower lip vermi... ORPHA:85321
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Brachydactyly OMIM:619692
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Camptodactyly of finger, Azoospermia, Cubitus valgus, Ambiguous ge... ORPHA:261519
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, R... ORPHA:363741
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Abno... ORPHA:210110
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion OMIM:155050
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Pycnodysostosis
Small hand, Carious teeth, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, Delayed erup... ORPHA:763
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Large for gestational age, Median cleft palate, Corneal opacity, Microphthalmia ORPHA:2432
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Micrognathia, Smo... OMIM:610883
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Everted lower lip vermilion,... OMIM:611174
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Malar flattening, Amelogenesis imperfecta, Diaphyseal dy... OMIM:614727
Zimmermann-Laband Syndrome
Bifid uvula, Cataract, Overtubulated long bones, Abnormal external genitalia, Micrognathia, Wide ... ORPHA:3473
8P11.2 Deletion Syndrome
Iris coloboma, Microcornea, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospe... ORPHA:251066
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition... OMIM:157900
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Defective DNA repair after ultraviolet radiation damage, Small for gestational ag... OMIM:278780
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Pancytopenia, Micrognathia, Cryptorchidism, Chromosomal breakage induc... OMIM:613951
Harrod Syndrome
Cataract, Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abnorma... ORPHA:2115
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Fanconi Anemia, Complementation Group L
Chromosome breakage, Bone marrow hypocellularity, Absent thumb, Micrognathia, Microphthalmia, Apl... OMIM:614083
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ... ORPHA:859
Microphthalmia, Syndromic 2
Hand clenching, Cryptorchidism, Anophthalmia, Contracture of the proximal interphalangeal joint o... OMIM:300166
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Cohen Syndrome
Finger syndactyly, Genu valgum, Micrognathia, Open mouth, Cryptorchidism, Narrow palm, Arachnodac... ORPHA:193
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... OMIM:206920
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met... OMIM:190350
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Thick lower lip vermilion, Micrognathia, Abnormal palate morph... ORPHA:1777
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Rod-cone dystrophy, Microphtha... OMIM:601794
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Malar prominence, Micrognathia, Hypogonadotropic hypogonadism, Finger join... ORPHA:48431
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Microphthalmia, Abnormality of retinal pigmentation, Splenome... ORPHA:290
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Retrognathia, Long philtrum, Decreased response to growth hormone stimulation test, Dec... ORPHA:280679
Sclerosteosis 1
Irregular menstruation, Tooth malposition, Abnormal pelvic girdle bone morphology, Optic atrophy,... OMIM:269500
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Dental malocclusion OMIM:615541
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Thin upper lip vermilio... OMIM:619719
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Abnormality of chromosome stability, Absent thumb, Aplastic anemia, Opt... OMIM:300514
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Micrognathia, A... ORPHA:93267
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Obesity, Retinal degeneration, Polydactyly, Rod-cone d... OMIM:615993
Frontonasal Dysplasia 1
Cataract, Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviatio... OMIM:136760
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Adducted thumb, Developmental cataract, Thromboc... OMIM:601815
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft palate OMIM:616570
Hallermann-Streiff Syndrome
Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptorchidism, Everted lower li... OMIM:234100
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Postaxial foot polydactyly, Microcornea, Finger syndactyly, Chorioretina... ORPHA:139471
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Three M Syndrome 2
Short 5th finger, Dental malocclusion, Slender long bone, Clinodactyly, Delayed eruption of teeth... OMIM:612921
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Retinal... OMIM:157980
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pancytopenia... ORPHA:562
Ataxia-Telangiectasia
Abnormality of chromosome stability, Failure to thrive, Aplasia/Hypoplasia of the thymus, Lymphop... ORPHA:100
Traboulsi Syndrome
Bifid uvula, Cataract, Dental malocclusion, Broad hallux, Retrognathia, Short finger, Ectopia len... OMIM:601552
Microphthalmia, Syndromic 8
Microcornea, Widely-spaced maxillary central incisors, Cleft upper lip, Cryptorchidism, Orofacial... OMIM:601349
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition, Retinal degeneration OMIM:251700
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level, Chromosomal breakage induced by ionizing radiation OMIM:613078
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthal... ORPHA:85167
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Pr... OMIM:613680
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of f... OMIM:616738
Noonan Syndrome 4
Dental malocclusion, Large for gestational age, Cryptorchidism, Cubitus valgus, Blue irides, Thro... OMIM:610733
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal lower limb bone morphology, Microphthalmia, Abnormal vitreo... ORPHA:2788
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Pigmentary retinopathy, Hypogonadism, Decreased response to growth ... ORPHA:3363
Cockayne Syndrome A
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip contracture, Delay... OMIM:216400
N Syndrome
Leukemia, Abnormality of chromosome stability, Hypospadias, Cryptorchidism OMIM:310465
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Cerebrooculofacioskeletal Syndrome 1
Cataract, Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum,... OMIM:214150
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism, Mandibular prognathia, Sinusitis ORPHA:908
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Schwartz-Jampel Syndrome
Elbow dislocation, Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip contracture, Decreas... ORPHA:800
Lessel-Kreienkamp Syndrome
Dental malocclusion, Open mouth, Thin upper lip vermilion, Clinodactyly of the 5th finger, Patent... OMIM:619149
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Sandal gap, Failure to thrive, Absent neutrophil specific granu... OMIM:617475
Elsahy-Waters Syndrome
Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, I... OMIM:211380
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, R... ORPHA:1473
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Microphtha... OMIM:212720
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, Slender long b... OMIM:616202
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Cryptorchidism, Tal... OMIM:615546
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Hypogonadism, Obesity, Large for gestational age, Polydactyly, Macula... OMIM:617119
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, A... OMIM:619151
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Giant platelets, Failure to thrive, Upper lim... OMIM:169400
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl... OMIM:144750
Braddock-Carey Syndrome 2
Clinodactyly, Retrognathia, Thrombocytopenia, Microphthalmia, Wide mouth, Cleft palate, Pierre-Ro... OMIM:619981
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Temtamy Syndrome
Dental crowding, Ectopia lentis, Long philtrum, Chorioretinal coloboma, Micrognathia, Talipes equ... OMIM:218340
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Trisomy 13
Bilateral single transverse palmar creases, Cryptorchidism, Displacement of the urethral meatus, ... ORPHA:3378
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... OMIM:609218
Ciliary Dyskinesia, Primary, 40
Azoospermia, Chronic sinusitis, Infertility, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Failure to thrive, Microphthalmia OMIM:274270
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Retrognathia, Widely spac... OMIM:300882
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Hypogonadism, External genital hypoplasia, Obesity, Retinal degenerat... OMIM:615981
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypospadias, Cleft lip, Dental malocclusion, Microphthalmia, Cryptorchidism, Hypogonado... OMIM:603457
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Syndactyly, Cl... OMIM:616894
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism, Arachnodacty... OMIM:265000
Lig4 Syndrome
Failure to thrive, Pancytopenia, Type II diabetes mellitus, Astigmatism, Chronic sinusitis, Crypt... OMIM:606593
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial ... ORPHA:1106
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Cleft palate OMIM:120433
Robinow Syndrome
Tooth malposition, Small scrotum, Ankyloglossia, Micrognathia, Marked delay in eruption of perman... ORPHA:97360
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinova... OMIM:180849
Fanconi Anemia, Complementation Group N
Aplastic anemia, Short thumb, Absent thumb, Acute myeloid leukemia, Chromosomal breakage induced ... OMIM:610832
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Widely spaced teeth, Micrognathia, Astigmatism, Microdontia, Down-sloping shoulders, Cu... OMIM:619694
Cockayne Syndrome B
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Delayed eruption of pr... OMIM:133540
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Hypospadias, Dental malocclusion, Clinodactyly, Downturned corners of mouth, Long ... ORPHA:487796
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Dental malocclusion, Failure to thrive, External genital hypoplasia, Micrognathia,... ORPHA:329178
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Radial-Renal Syndrome
Chromosome breakage, Absent thumb, Absent radius OMIM:179280
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, External genital hypoplasia... OMIM:615996
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Bowing of the long bones, Thrombocytopenia, Short long bone, Camptoda... OMIM:619751
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal morphology of ulna, Abnormal metacarpal morp... ORPHA:2233
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
45,X/46,Xy Mixed Gonadal Dysgenesis
Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Streak ovary, Chordee, Abnormal intern... ORPHA:1772
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Camptodactyly of finger, Micrognathia, Developmental cataract, Microphth... OMIM:610756
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Clinodactyly, Downturned corners of mouth, Cutane... OMIM:601390
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, ... OMIM:611638
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Cataract, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, ... ORPHA:163649
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Acrodysostosis
Open bite, Abnormal female external genitalia morphology, Open mouth, Cryptorchidism, Bowing of t... ORPHA:950
Facial Clefting, Oblique, 1
Cleft upper lip, Deep palmar crease, Coloboma, Microphthalmia, Cleft palate OMIM:600251
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Postaxial foot polydactyly, Obesity, Attenuation of retinal blo... OMIM:615986
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Open bite, Genu valgum, Micrognathia, Open mouth, Cryp... ORPHA:534
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
Baraitser-Winter Syndrome 1
Iris coloboma, Retrognathia, Long philtrum, Cleft upper lip, Chorioretinal coloboma, Failure to t... OMIM:243310
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Zika Virus Disease
Wrist swelling, Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy... ORPHA:448237
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Cryptorchidism, Arachnodactyly, Slender toe, High palate OMIM:310400
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Neonatal death, Microphthalmia, Bicornu... OMIM:615524
Congenital Toxoplasmosis
Failure to thrive in infancy, Abnormality of retinal pigmentation, Thrombocytopenia, Microphthalm... ORPHA:858
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors OMIM:300915
Cockayne Syndrome
Lentiglobus, Carious teeth, Absence of pubertal development, Cryptorchidism, Delayed eruption of ... ORPHA:191
Nance-Horan Syndrome
Abnormality of the dentition, Microcornea, Cataract, Retinal detachment, Microphthalmia, Supernum... ORPHA:627
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of fin... OMIM:602782
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Long philtrum, Thick lower lip vermilion, Myopic astigmatis... OMIM:152950
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cataract, Limited mobility of proximal interphalangeal joi... OMIM:222300
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Larsen-Like Syndrome
Dental malocclusion, Radial deviation of the 4th finger, Malar flattening, Talipes equinovarus, B... OMIM:608545
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, Thin upper lip vermi... OMIM:617877
Frank-Ter Haar Syndrome
Megalocornea, Micrognathia, Bowing of the long bones, Talipes equinovarus, Prominent coccyx, Bila... OMIM:249420
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Hepatosplenomegaly, Azoospermia, Adrenal insufficiency, Reticulocytopenia, Dysplast... ORPHA:300298
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva ORPHA:517
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spondyloenchondrodysplasia
Hypoplastic ilia, Short distal phalanx of finger, Dental malocclusion, Delayed eruption of teeth,... ORPHA:1855
Fanconi Anemia, Complementation Group U
Chromosome breakage, Absent thumb, Patent ductus arteriosus, Hypoplasia of the radius, Absent rad... OMIM:617247
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Focal Dermal Hypoplasia
Toe syndactyly, Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Microphthalmia, Foot polyda... OMIM:305600
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia... ORPHA:3320
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia, Anterior open-bite... ORPHA:83601
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Abnor... ORPHA:251014
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphtha... ORPHA:324416
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Micrognathia, Leukocytosis, Cr... ORPHA:99812
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive, Thrombocytopenia ORPHA:67048
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Scapular winging, High pa... OMIM:617258
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Microphthal... OMIM:615665
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Bernard-Soulier Syndrome
Gingival bleeding, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggreg... OMIM:231200
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Long philtrum, Large for gestational age, Decreased c... OMIM:616638
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, R... OMIM:244300
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Cryptorchidis... OMIM:611209
Hajdu-Cheney Syndrome
Foot acroosteolysis, Hypospadias, Dental malocclusion, Failure to thrive, Long philtrum, Genu val... OMIM:102500
H Syndrome
Corneal arcus, Cleft upper lip, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly,... ORPHA:168569
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Microphthalmia, Lenz Type
Abnormality of the dentition, Cataract, Microcornea, Hypospadias, Finger syndactyly, Delayed erup... ORPHA:568
Atelis Syndrome 1
Cataract, Carious teeth, Long philtrum, Leukopenia, Hypothyroidism, Thrombocytopenia, Anemia, Hig... OMIM:620184
Congenital Myopathy 17
Hand clenching, Dental malocclusion, Clinodactyly, Long philtrum, Failure to thrive in infancy, O... OMIM:618975
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplas... ORPHA:3103
Mirage Syndrome
Hypospadias, Microphallus, Radial club hand, Lymphopenia, Overlapping fingers, Leukopenia, Decrea... OMIM:617053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Retrognathia, Overlapping fingers, Leukopenia, Astigmatism, Cryptorch... OMIM:301056
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Clinodactyly, Retrognathia, Hypogonadism, Failure to thrive in in... OMIM:615547
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Martin-Probst Syndrome
Dental malocclusion, Bifid scrotum, Thick lower lip vermilion, Pancytopenia, Micrognathia, Malar ... OMIM:300519
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Talipes equinovar... OMIM:619148
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Oral ulcer, Thrombocytopen... OMIM:229050
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dyskeratosis Congenita, Autosomal Recessive 8