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Gene: Fanci MGI:2384790

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Gene Summary

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

Order Alleles

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
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor... OMIM:609053
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Abnormality of the uterus, Trip... 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
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
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 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
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 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
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 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
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 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
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 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, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
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 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
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 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
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 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
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
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
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 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 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 17
Male infertility OMIM:617214
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
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
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
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
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
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Fanconi Anemia, Complementation Group S
Chromosome breakage, Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate... OMIM:617883
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
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
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Downturned corners of mout... OMIM:617052
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Cryptorchidism, Shor... OMIM:194350
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Toe syndactyly, Camptodactyly of finger, Long fingers, Bulle... ORPHA:1617
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Chromosomal... OMIM:616435
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent... OMIM:227650
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Macular dystrophy, M... OMIM:615983
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Fanconi Anemia, Complementation Group O
Chromosome breakage, External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryp... OMIM:613390
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Abnormal thumb morphology, Anemia, Neutropenia, Microphthalm... OMIM:614082
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Single transverse palmar crease, Abnormally large glob... OMIM:210600
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent rad... OMIM:600901
Gombo Syndrome
Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Mcdonough Syndrome
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Cryptorchidism, Dental malocclusion, Sh... ORPHA:2471
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Thrombocytop... OMIM:603467
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Abnormal dental morphology, Tapered finger, Cryptorchidism, Tooth malpositio... ORPHA:85274
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opa... ORPHA:61
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Obesity, Coloboma, Hypogonadism... ORPHA:141333
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... OMIM:257850
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... OMIM:613684
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent rad... OMIM:227645
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly, Hypogonadism, Obesity OMIM:615988
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Syndactyly, Small for gestational age, ... OMIM:210900
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... ORPHA:2980
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... OMIM:101800
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 3rd toe, Short 2nd toe, Short 5th finger, Short 4th toe, Decreased body weight, Failure to ... OMIM:619060
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, High palate, Hypogonadism, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Pierpont Syndrome
Microcornea, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Cryptorchidis... OMIM:602342
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Progeria-Short Stature-Pigmented Nevi Syndrome
Selective tooth agenesis, Micrognathia, Microcytic anemia, T lymphocytopenia, Decreased serum est... ORPHA:2959
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, H... OMIM:615982
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact... ORPHA:1327
Pierpont Syndrome
Thin upper lip vermilion, Small for gestational age, Cryptorchidism, Short toe, Broad philtrum, M... ORPHA:487825
Fragile X Syndrome
Macroorchidism, postpubertal, Mandibular prognathia, Folate-dependent fragile site at Xq28, Metac... OMIM:300624
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Broad hallux, Sandal gap, Conical tooth, Persistence of primary teeth, Clinodactyly, Op... OMIM:618727
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short thumb, T-cell acute lymphoblastic leukemias, Bone marrow hypocellul... OMIM:605724
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor... OMIM:609053
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange... ORPHA:3434
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Micrognathia, Optic atrop... ORPHA:1466
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Increased circulating IgE lev... ORPHA:1858
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar musc... OMIM:612350
Fanconi Anemia, Complementation Group D2
Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Cryptorchidism, Short ... OMIM:227646
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, Ma... ORPHA:436245
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Bone marrow hypocellularity, Chromosomal breakage induced by crossli... OMIM:609054
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion,... OMIM:608940
Mulibrey Nanism
Dental crowding, Corneal dystrophy, Single transverse palmar crease, Absent frontal sinuses, Thic... OMIM:253250
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Bardet-Biedl Syndrome 10
Retinal dystrophy, Obesity, Hypogonadism, Polydactyly, Rod-cone dystrophy OMIM:615987
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Hypospadias, Exaggerated cupid's bow, Tapered finger, Cryptorchidism, P... OMIM:619293
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, External genital hypoplasia, Micrognathia, Tibial bowing, Coloboma, High palate,... ORPHA:251028
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate OMIM:618292
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Warburg Micro Syndrome 1
Overlapping toe, External genital hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Develo... OMIM:600118
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Anemia, Bone marrow hypocellularity,... OMIM:617244
Immunodeficiency 54
Chromosome breakage, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Fai... OMIM:609981
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Small hand, Short foot, Truncal obesity, Thin vermilion border, Hypogonadism, Fai... ORPHA:261483
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Pancytopenia, Cataract, Micrognathia, Abnormality of the dent... ORPHA:85321
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... OMIM:601957
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft pala... OMIM:616331
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Cataract, Small for gestational age, Hypospadias... OMIM:123450
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Oculofaciocardiodental Syndrome
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb... ORPHA:2712
Bardet-Biedl Syndrome 7
Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Narrow mouth, Mala... OMIM:615984
Intermediate Osteopetrosis
Abnormal dental morphology, Abnormality of the dentition, Thrombocytopenia, Dental malocclusion, ... ORPHA:210110
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Hypospadias, Overlapping toe, Increased mean platelet volume, Proximal ... OMIM:616737
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Craniosynostosis 3
Hallux valgus, Dental malocclusion, Single transverse palmar crease, Brachydactyly OMIM:615314
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, M... ORPHA:363741
Harrod Syndrome
Cataract, Hypospadias, Arachnodactyly, Cryptorchidism, Dental malocclusion, Abnormal shoulder mor... ORPHA:2115
Fanconi Anemia, Complementation Group P
Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, ... OMIM:613951
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Hamamy Syndrome
Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Hypoparathyroidism,... OMIM:611174
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysge... OMIM:610023
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Micrognathia, Optic atrophy, Microcornea, Talipes e... OMIM:616171
Momo Syndrome
Delayed eruption of teeth, Large for gestational age, Abnormality of the thyroid gland, Bilateral... ORPHA:2563
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Developmental cataract, Decreased testicular size, Thrombocytopenia, Adduct... OMIM:601815
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Abnormal dental pulp morp... ORPHA:2791
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... OMIM:206920
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Rieger anomaly, Cataract, Small for gestational ag... OMIM:269880
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... ORPHA:193
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Moebius Syndrome
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Abnormality of the dentit... OMIM:157900
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Brachydactyly OMIM:619692
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short distal phalanx of finger OMIM:155050
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Proximal placement of... ORPHA:139471
N Syndrome
Cryptorchidism, Leukemia, Hypospadias, Abnormality of chromosome stability OMIM:310465
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Microcorne... OMIM:601349
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Sinusitis, Mandibular prognathia ORPHA:908
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystr... OMIM:601794
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Large for gestational age, Microcornea, Microphthalmia, Median cleft palate ORPHA:2432
Pycnodysostosis
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... ORPHA:763
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of ... OMIM:616738
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Microcornea, Oligodontia, Fused teeth, Contracture of... OMIM:300166
Zimmermann-Laband Syndrome
Hallux valgus, Cataract, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary t... ORPHA:3473
Potocki-Lupski Syndrome
Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Dental malocclus... OMIM:610883
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Diaphyseal dysplasia, Malar flattening, Failure to t... OMIM:614727
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Abnormality of the ... ORPHA:363444
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Abnormality of chromosome stability, Polycystic ovaries, De... ORPHA:100
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Small for gestational age, Defective DNA repair after ultraviolet radia... OMIM:278780
Fanconi Anemia, Complementation Group L
Chromosome breakage, Micrognathia, Absent thumb, Chromosomal breakage induced by crosslinking age... OMIM:614083
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C... OMIM:234100
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... ORPHA:859
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... OMIM:617243
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Patent ductus arter... ORPHA:290
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Temtamy Syndrome
Brachydactyly, Micrognathia, Short toe, Thick lower lip vermilion, Chorioretinal coloboma, Clinod... ORPHA:1777
Mccune-Albright Syndrome
Abnormal femur morphology, Hyperthyroidism, Precocious puberty, Abnormal facial skeleton morpholo... ORPHA:562
Noonan Syndrome 4
Large for gestational age, Cryptorchidism, Dental malocclusion, Blue irides, Wide mouth, Thick ve... OMIM:610733
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Scapular winging, Short metacarpal, Ivory ep... OMIM:190350
Bardet-Biedl Syndrome 16
External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Rod-cone dystrophy, Retinal dege... OMIM:615993
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Microcornea OMIM:251505
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Dental malocclusion OMIM:615541
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Dental malocclusion, Widely-spaced maxillar... OMIM:619719
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Cataract, Small for gestational age, Rocker bottom foot, Micrognathia,... OMIM:214150
Cerebellofaciodental Syndrome
Cataract, Single transverse palmar crease, Tapered finger, Cryptorchidism, Dental malocclusion, S... OMIM:616202
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia,... ORPHA:48431
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Micrognathia, Downtu... ORPHA:93267
Frontonasal Dysplasia 1
Median cleft lip, Cataract, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic fr... OMIM:136760
Sclerosteosis 1
Mandibular prognathia, Papilledema, Syndactyly, Optic atrophy, Irregular menstruation, Dental mal... OMIM:269500
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplas... OMIM:300514
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration, Abnormality of the dentition OMIM:251700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Abnormality of ... ORPHA:3363
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia OMIM:616570
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Incr... OMIM:305620
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Long ph... ORPHA:800
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Small for gestational age, Dental malocclusion, Prom... OMIM:612921
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ... OMIM:157980
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Van Maldergem Syndrome 2
Bifid scrotum, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Microgna... OMIM:615546
Trisomy 13
Anophthalmia, High, narrow palate, Iris coloboma, Bilateral single transverse palmar creases, Cry... ORPHA:3378
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal death, Micr... OMIM:615524
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cutane... OMIM:211380
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... ORPHA:85167
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... ORPHA:65759
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Cubitus valgus, Dental malo... OMIM:601552
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... ORPHA:1106
Cockayne Syndrome A
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... OMIM:216400
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Metaphyse... ORPHA:2788
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short phalanx of fing... OMIM:616894
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... OMIM:613680
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Abnormality of the uterus, Trip... ORPHA:84
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Cryptorchidism, Dental malocclusion, Slender toe, High palate OMIM:310400
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Camptodactyly of t... OMIM:265000
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... OMIM:212720
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Cleft pala... OMIM:300882
Specific Granule Deficiency 2
Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thrombocytopenia, ... OMIM:617475
Lig4 Syndrome
Pancytopenia, Small for gestational age, Cryptorchidism, Hypothyroidism, Acute lymphoblastic leuk... OMIM:606593
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... OMIM:619151
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... ORPHA:97360
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retrognathia, Thro... OMIM:619981
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Pelger-Huet Anomaly
Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Decreased fertility, Obesity, High palate, Hypogonadism, Abnormal me... ORPHA:2233
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal scle... OMIM:144750
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Dental malocclusion OMIM:608931
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Duplication of phalanx of hallux, Pate... OMIM:243310
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Bilateral cr... OMIM:180849
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... ORPHA:1473
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cataract, Cryptorchidism,... OMIM:603457
Cockayne Syndrome B
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Micr... OMIM:133540
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Failure to thrive, Optic atrophy OMIM:274270
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Macular hypopigmentation, Hypogon... OMIM:617119
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Patent ductus arteriosus, Dental malocclusion, Clinodactyly of the 5th ... OMIM:619149
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Adams-Oliver Syndrome 4
Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the middle ... OMIM:615297
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio... ORPHA:93323
Temtamy Syndrome
Dental crowding, Micrognathia, Lens luxation, Ectopia lentis, Hip dislocation, Hypoplasia of teet... OMIM:218340
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Abnormality of chromosome stability, Micrognathia, Cryptorchid... ORPHA:99812
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Kapur-Toriello Syndrome
Cataract, Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Cleft up... OMIM:244300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Hypogonadism, Cubitus valgus, Abnormality of the ovary ORPHA:1875
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
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
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Rhizomelia, Large for gestational age, Short proximal phalanx of finger... OMIM:616638
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Radial-Renal Syndrome
Absent radius, Chromosome breakage, Absent thumb OMIM:179280
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, Optic atrophy... ORPHA:329178
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia OMIM:600251
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Down-sloping shoulders, Micrognathia, Cubitus valgus, Astigmatism, Widely spaced teeth,... OMIM:619694
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Stt3B-Cdg
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia ORPHA:370924
2Q31.1 Microdeletion Syndrome
Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Coloboma, Sh... ORPHA:251014
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Obesity, Postaxial fo... OMIM:615981
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Cataract, Hypospadias, Abnormal dental morphology, ... ORPHA:568
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac... ORPHA:3103
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Small for gestational age, Cataract, Rocker bottom foot, Micrognathia, Camptodacty... OMIM:610756
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Thrombocyto... OMIM:619751
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Chorioretinal coloboma, Microphthalmia, ... OMIM:611638
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia OMIM:615597
Trichothiodystrophy 3, Photosensitive
Natal tooth, Lymphopenia, Cataract, Increased circulating IgA level, Bilateral cryptorchidism, Ca... OMIM:616395
Hajdu-Cheney Syndrome
Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus arteriosus, Dent... OMIM:102500
Cockayne Syndrome
Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retinal atrophy, Abnormal den... ORPHA:191
Focal Dermal Hypoplasia
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypopla... OMIM:305600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Cataract, Micrognathia, Coxa valga, Abnormality of the elbow, Cleft palate, F... ORPHA:163649
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, External genital hypoplasia, Mesoaxial hand polydactyly, Postaxial polyd... OMIM:615996
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor... ORPHA:448237
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Overlapping toe, Increased mea... ORPHA:487796
Van Maldergem Syndrome 1
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Hypospadias, Micrognath... OMIM:601390
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypo... OMIM:222300
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Failure to thrive in infancy, Anemia, Microphthalmia, Thromb... ORPHA:858
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosu... OMIM:608104
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Congenital Disorder Of Glycosylation, Type Iig
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Hypospadias, Rhizomelia... OMIM:611209
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Microg... ORPHA:3409
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, C... OMIM:152950
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors OMIM:300915
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... OMIM:619148
Nance-Horan Syndrome
Mandibular prognathia, Retinal detachment, Short metacarpal, Cataract, Abnormality of the dentiti... ORPHA:627
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Optic nerve hypoplasia, Hypospadias, Corneal opacity, Rocker bottom fo... OMIM:301056
Ruvalcaba Syndrome
Short palm, Short metacarpal, Retinal dystrophy, Dental crowding, Micromelia, Cryptorchidism, Lim... OMIM:180870
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Impaired ADP-induced platelet aggregation, Neutrophi... OMIM:155100
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent ductus arteriosus, Downturned corners of mouth, Coloboma, Peters... OMIM:618652
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia ORPHA:517
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Iris hypopigmentation, Thrombocytopenia, Cataract ORPHA:67048
Cerebellar-Facial-Dental Syndrome
Cataract, Single transverse palmar crease, Micrognathia, Tapered finger, Cryptorchidism, Dental m... ORPHA:444072
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Larsen-Like Syndrome
Dental malocclusion, Cleft palate, Radial deviation of the 4th finger, Talipes equinovarus, Clino... OMIM:608545
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Rocker bottom foot, Cryptorchidi... OMIM:617053
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular ante... ORPHA:324416
Fanconi Anemia, Complementation Group U
Chromosome breakage, Absent thumb, Absent radius, Patent ductus arteriosus, Hypoplasia of the rad... OMIM:617247
Frank-Ter Haar Syndrome
Micrognathia, Abnormally large globe, High palate, Short palm, Megalocornea, Short phalanx of fin... OMIM:249420
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Cryptorchidism, Thiamine-respon... OMIM:249270
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr... ORPHA:1855
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin sequence, Anterior... OMIM:617877
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... ORPHA:899
Schaaf-Yang Syndrome
Mandibular prognathia, Failure to thrive in infancy, Abnormality of the philtrum, Rocker bottom f... OMIM:615547
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Atelis Syndrome 1
Cataract, Carious teeth, Thrombocytopenia, Leukopenia, High palate, Long philtrum, Hypothyroidism... OMIM:620184
48,Xxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Abnorm... ORPHA:96263
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Retinal dys... OMIM:615665
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Hypoplasia of the... ORPHA:950
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Exaggerated cupid's bow, Corneal opacity, Scler... ORPHA:284160
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Menorrhagia, Gingival bleeding, Impaire... OMIM:231200
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malo... OMIM:300519
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Sho... OMIM:619135
Myopathy, Myofibrillar, 8
Scapular winging, Micrognathia, Dental malocclusion, High palate, Joint contracture of the 5th fi... OMIM:617258
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Oral ulcer, Leukopenia, Neutropenia, Failure to thrive, T... OMIM:229050
Warburg Micro Syndrome 3
Small scrotum, Cataract, Micrognathia, Hypoplastic labia minora, Optic atrophy, Narrow palate, De... OMIM:614222
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Hypospadias, Short lingual frenulum, Single transverse palmar crease, M... ORPHA:96121
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Small hand, ... OMIM:300869
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody le... OMIM:615285
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,... OMIM:618975
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Cl... ORPHA:85284
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... ORPHA:85327
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia