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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
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... OMIM:163950
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... OMIM:209900
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Deep philtrum, Trismus, ... OMIM:227330
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology, Sea-blue his... OMIM:607616
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Cryptorchidism, Neonatal death, Microphthalmia OMIM:613730
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia OMIM:610539
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Kabuki Syndrome 2
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cleft palate, Hig... OMIM:300867
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... OMIM:300373
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... OMIM:209885
Pelvis-Shoulder Dysplasia
Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris co... ORPHA:2839
Malaria
Anemia, Retinopathy, Thrombocytopenia ORPHA:673
Alg8-Cdg
Cataract, Small for gestational age, Thrombocytopenia, Optic atrophy, Macroglossia, Talipes equin... ORPHA:79325
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue iri... OMIM:614613
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity, Absent thumb OMIM:615272
Sengers Syndrome
Cataract, Premature ovarian insufficiency, Thrombocytopenia, Developmental cataract OMIM:212350
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cryp... OMIM:614230
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Metaphyseal widening, Me... OMIM:182212
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Cataract, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Short f... ORPHA:250989
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Neutropenia, Rhizomelia, Gin... ORPHA:175
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Hypospadias, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Small ... OMIM:300354
Seckel Syndrome 2
Small for gestational age, Hypospadias, Micrognathia, Clinodactyly of the 5th finger, Microdontia... OMIM:606744
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Abnormal external genitalia, Narrow mouth ORPHA:3469
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthalmos, Failure to thrive, Anemia OMIM:615085
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thin upper lip vermilion, Hyperextensibility of the finger joints, External genital hypoplasia, M... ORPHA:3041
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... OMIM:242900
Fanconi Anemia, Complementation Group N
Short thumb, Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Small ha... OMIM:619339
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Micrognathia, D... OMIM:115150
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Abnormal retinal morphology, Rocker bottom foot, Micrognathia, Camp... OMIM:610758
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Microphthalmia, Leukemia, Smooth philtrum OMIM:602501
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Radial deviation of finger, Thrombocytopenia, Micrognathia OMIM:188025
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Dental malocclusion, Retrogna... OMIM:616580
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Decreased body weight OMIM:618097
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Abnormality of neutrophils, Clinodactyly of the 5th toe, Thrombocyt... ORPHA:229717
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... OMIM:614976
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Slender long bone, Increased s... ORPHA:96181
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Cryptorchidism, Deep philtrum, 2-3... ORPHA:404440
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... ORPHA:2920
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo... OMIM:615994
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangi... ORPHA:2547
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Micropenis, Absent distal ... ORPHA:1692
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, Ambiguous ge... OMIM:260660
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal pelvi... ORPHA:3079
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypoplastic spleen, Slender long bone, Aniridia, Microphthalmia, Mic... OMIM:602361
Braddock-Carey Syndrome 1
Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted lower lip vermilion, Thick... OMIM:619980
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Cryptorchidism, Thrombocytopen... ORPHA:261250
Nance-Horan Syndrome
Diastema, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cataract, Broa... OMIM:302350
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Short ... OMIM:268400
Preeclampsia
Increased body mass index, Small for gestational age, Polycystic ovaries, Type I diabetes mellitu... ORPHA:275555
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Cleft palate, Microphthalmia OMIM:164180
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... ORPHA:435638
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Coloboma, Hypospadias, Broad hallux, Cryptorchidism, Supernumerary tooth, Talon ... ORPHA:353281
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Normochromic anemia, Neutropenia, Failure... OMIM:614857
49,Xxxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Abnorm... ORPHA:96264
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Hip dysplasia, Astigmatism, Chorioretin... ORPHA:494344
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Cataract, Absent toe, Split hand, Absent hand, Leukopenia, Abno... ORPHA:974
Warburg Micro Syndrome 2
Small scrotum, Cataract, Overlapping toe, Cryptorchidism, Optic atrophy, Developmental cataract, ... OMIM:614225
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Downturned corners of mouth, Coloboma, Abnormal optic nerve morphology, Hypo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Downturned corners of mouth, Coloboma, Abnormal optic nerve morphology, Hypo... ORPHA:352665
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Bardet-Biedl Syndrome 8
Hypospadias, Postaxial polydactyly, Obesity, Hypogonadism, Rod-cone dystrophy OMIM:615985
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Downturned corners of mouth, Chorioretinal hypopigmen... ORPHA:398079
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Single transverse palmar crease, Micrognathia, Diastema,... OMIM:620185
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Postaxial polydactyly, Splenomegaly, Patent ductus arteri... OMIM:614576
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Hydrolethalus
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle... ORPHA:2189
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,... OMIM:618874
Jacobsen Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macul... OMIM:147791
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Clubbing of fingers, Gingival ... ORPHA:335
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Juvenile cataract, Short phalanx ... ORPHA:221008
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Coloboma, High palate, Syndactyly, Hypospadias, Broad hallux, Cryp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Coloboma, High palate, Syndactyly, Hypospadias, Broad hallux, Cryp... ORPHA:353277
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Phelan-Mcdermid Syndrome
Micrognathia, Patent ductus arteriosus, Dental malocclusion, 2-3 toe syndactyly, Large hands, Hig... OMIM:606232
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia ORPHA:1135
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Rhizomelia, Precocious puberty, 2-3 toe syndac... OMIM:615877
Lathosterolosis
Hypoplasia of penis, Cataract, Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Gingival... ORPHA:46059
Joubert Syndrome 37
Postaxial polydactyly, Cryptorchidism, Obesity, High palate, Microphthalmia, Micropenis, Decrease... OMIM:619185
Sandestig-Stefanova Syndrome
Small for gestational age, Rocker bottom foot, Orofacial cleft, Developmental cataract, High pala... OMIM:618804
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Ambiguous genitali... OMIM:613885
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Micrognathia, Cryptorchidism,... ORPHA:2510
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... OMIM:615560
Wilson Disease
Abnormality of the hand, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Incr... ORPHA:905
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... OMIM:618914
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Conjunctivitis, Neutropenia,... OMIM:616740
Marinesco-Sjögren Syndrome
Cataract, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital femoral epip... ORPHA:559
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... OMIM:618048
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, C... OMIM:610125
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar... OMIM:122470
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Clinodactyly, Bilater... ORPHA:369891
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Wide capital femoral epiphyses, Small for gestational age, Impaired T cell function,... ORPHA:1830
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced plate... OMIM:614074
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat... OMIM:616300
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Tapered finger, Cryptorchidism, Short toe, Orofacia... ORPHA:127
Ohdo Syndrome, X-Linked
Small scrotum, Overlapping toe, Ulnar deviation of the hand, Micrognathia, Cryptorchidism, Narrow... OMIM:300895
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... ORPHA:1553
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Large for gestational age, Thrombocytopenia, High palate, Bone marrow hypocellularity... OMIM:614520
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism ORPHA:85173
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Proximal pl... OMIM:618624
Dubowitz Syndrome
Aplastic anemia, Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High pala... OMIM:223370
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Femur fracture, Carious teeth, Thrombocytopenia, Splenomegaly, Optic atrophy, Flare... OMIM:259700
Dk Phocomelia Syndrome
Phocomelia, Thrombocytopenia OMIM:223340
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Microgna... ORPHA:251066
Congenital Varicella Syndrome
Microphthalmia, Cataract, Micromelia ORPHA:291
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Microp... ORPHA:79324
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... ORPHA:861
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Clubbing, Polysplenia, R... ORPHA:244
3Q29 Microduplication Syndrome
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Abnormality of the dentition, Deep philtrum, ... ORPHA:251038
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Oral ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto... ORPHA:83601
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Cataract, Short toe, Short metatarsal, Obesity, Pseu... OMIM:103580
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris c... ORPHA:959
Osteogenesis Imperfecta
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... ORPHA:666
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Micrognathia, Tapered finger, Erythroid hypoplasia, Thrombocytopenia, ... OMIM:620072
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... OMIM:605432
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Micrognathia, Microcornea, Coloboma, Iris transillumination defect, Decreased body weig... OMIM:617306
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Narrow mouth, ... OMIM:615663
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Upper limb asymmetry, Mic... ORPHA:2505
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... ORPHA:464738
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum, Microphthalmia, R... OMIM:614583
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cryptorchidism, High, narrow pala... OMIM:618494
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Thrombocytopenia, ... ORPHA:507
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... ORPHA:534
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Microphthalmia, Failure to thrive OMIM:612379
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Short philtrum, Neutropenia, Clinodactyly, Decreased platelet glycoprotein... OMIM:603585
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Decreased fert... ORPHA:1173
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Micrognathia, Cryptorchidism, Optic atrophy, Orofacial cleft, Mi... ORPHA:3301
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Cataract, Single transverse palmar crease, Broad hallux, Retinal pigm... OMIM:614105
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Thrombocytopenia, Deep philtrum, Splenomegaly, Patent du... OMIM:606003
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Abnormality of thumb p... ORPHA:235
Adams-Oliver Syndrome 2
Single transverse palmar crease, Micrognathia, Optic atrophy, Developmental cataract, Absent dist... OMIM:614219
Marden-Walker Syndrome
Hypospadias, Arachnodactyly, Micrognathia, Cryptorchidism, High, narrow palate, Cleft palate, Rad... OMIM:248700
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Diabet... OMIM:598500
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Cryptorchidism... OMIM:612530
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Anophthalmia, Hypospadias, Dental crowding, Corneal opacity, Cle... OMIM:219000
Ring Chromosome 10 Syndrome
Sandal gap, Cachexia, Micrognathia, Tapered finger, Thin vermilion border, Long philtrum, Microph... ORPHA:1438
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Cataract, Elevated circulating thyroid-stimulating h... OMIM:612462
Bone Marrow Failure Syndrome 4
Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity... OMIM:618116
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Dental crowding, Abnormality of the dentition, Tapered finger, Patent duct... ORPHA:65286
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Decr... OMIM:241410
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... OMIM:613101
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Patent ductus arteriosus, Abnormal vagina morphology, Anemia ORPHA:2123
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... ORPHA:2092
Monosomy 18P
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... ORPHA:1598
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy, Talipes equinovarus OMIM:617255
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Small for gestational age, Metaphyseal... OMIM:260400
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidis... OMIM:613990
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Thrombocytopenia ORPHA:49827
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping ... ORPHA:85293
Babesiosis
Hemolytic anemia, Splenomegaly, Thrombocytopenia, Leukopenia, Clinodactyly of the 5th toe ORPHA:108
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thro... ORPHA:848
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Thrombocytopenia, Reticuloc... ORPHA:508542
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Rocker bottom foot, Micromelia, Micrognathia, Asplenia, Cry... ORPHA:99776
Kapur-Toriello Syndrome
Hypoplasia of penis, Patent ductus arteriosus, Orofacial cleft, Hypoplastic labia majora, Retinal... ORPHA:2328
Trisomy 18
Microcornea, Iris coloboma, Bilateral single transverse palmar creases, Microretrognathia, Crypto... ORPHA:3380
Myh9-Related Disease
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Presen... ORPHA:182050
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormone concent... OMIM:601812
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Optic atrophy, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79312
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro... ORPHA:3472
Microphthalmia, Syndromic 6
Small scrotum, Anophthalmia, Single transverse palmar crease, Sclerocornea, Micrognathia, Adrenal... OMIM:607932
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop... ORPHA:2250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Retinal dystrophy, Developmental cataract OMIM:613155
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Failure to thrive in infancy,... ORPHA:261323
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Meckel Syndrome
Anophthalmia, Sclerocornea, Micrognathia, Asplenia, Microcornea, Accessory spleen, Abnormal chori... ORPHA:564
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia, Abnormal opti... ORPHA:3226
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persis... ORPHA:93325
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor, Sandal gap, Long philtrum OMIM:300887
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas... OMIM:169550
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Conical tooth, Abnormality of the dentition, Cryptorchidism, Hypogonadism, Microph... ORPHA:228390
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Dental crowding... ORPHA:2052
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Immunodeficiency 32B
Sinusitis, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, ... OMIM:226990
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Metaphyseal widening, Optic atrophy, Clubbing, Patent ductus arte... OMIM:617303
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thr... OMIM:614700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... ORPHA:811
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Cataract, Micrognathia, Tapered finger, ... OMIM:620005
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia OMIM:615750
Pseudo-Torch Syndrome 1
Microretrognathia, Cataract, Cleft lip, Splenomegaly, Patent ductus arteriosus, High palate, Opac... OMIM:251290
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... OMIM:303600
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Splenomegaly, Hammertoe, Abnorma... ORPHA:773
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental crowding, Decreased serum leptin, Micrognathia, Limited elbow movement,... OMIM:614008
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Senior-Loken Syndrome 9
Retinal dystrophy, Hypoplasia of the femoral head, Obesity, Macular degeneration, Hypogonadism, P... OMIM:616629
Beemer-Ertbruggen Syndrome
Micrognathia, Cryptorchidism, Deep philtrum, Ambiguous genitalia, Thrombocytopenia ORPHA:1237
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement of thumb, Throm... OMIM:620370
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Failure to thrive, Redu... OMIM:616050
Cherubism
Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar... OMIM:118400
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... OMIM:607323
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Weight loss, Leu... ORPHA:520
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Dental malocclusion, Diaphyseal sclerosis, Hepatosplenomegaly, Opti... OMIM:259730
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... ORPHA:163966
Williams Syndrome
Hypoplasia of penis, Micrognathia, Microdontia, Clinodactyly of the 5th finger, Megalocornea, Hyp... ORPHA:904
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cataract, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned ... OMIM:618571
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Hypospadias, Cataract, Single transverse palmar crease, 2-3 toe synda... OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia OMIM:613153
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Single transverse palmar crease, Intermittent thrombocytopenia, Cryptorchidism, Eryt... OMIM:612541
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th... ORPHA:124
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Protruding tongue, Micrognathia,... ORPHA:2268
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Corneal opacity, Abnormality of canine, Apla... ORPHA:364577
Ruijs-Aalfs Syndrome
Cataract, Single transverse palmar crease, Down-sloping shoulders, Micrognathia, Posterior subcap... OMIM:616200
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Preaxial polydact... OMIM:243605
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic iliac wing, Pteryg... OMIM:263650
Localized Scleroderma
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Upper lim... ORPHA:90289
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar c... OMIM:612394
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Juvenile cataract, S... ORPHA:221016
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Hip dysplasia, Narrow mouth, Microp... OMIM:611961
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Transaldolase Deficiency
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly ORPHA:101028
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Micrognathia, Obesity, Type II diabetes mellitus, Mic... ORPHA:3191
Incontinentia Pigmenti
Delayed eruption of teeth, Retinal detachment, Finger syndactyly, Cataract, Abnormal chorioretina... ORPHA:464
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Mogs-Cdg
External genital hypoplasia, Optic atrophy, Retrognathia, Decreased circulating antibody level, H... ORPHA:79330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Coloboma, Clinodactyly of the 5th finger, Microphthalmia, Conjunctival... OMIM:167730
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Hartsfield Syndrome
Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, Microphthalmia ORPHA:2117
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Thin vermilion border, Long philtru... ORPHA:85194
Oculodentodigital Dysplasia
Cataract, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cubitus valgus, Clinodactyly,... OMIM:164200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Dyskeratosis Congenita
Cataract, Diabetes mellitus, Abnormality of neutrophils, Abnormality of the dentition, Hypoplasia... ORPHA:1775
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leukopenia, Co... ORPHA:1328
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Cryptor... OMIM:139210
Frontorhiny
Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft ... ORPHA:391474
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Patent ductus arter... ORPHA:77298
X-Linked Agammaglobulinemia
Sinusitis, Thrombocytopenia, Weight loss, Agammaglobulinemia, Glossoptosis, Conjunctivitis, Neutr... ORPHA:47
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Decreased fertility, Hypoplasia of teeth, Microcornea, Keratoconjunctivitis sicca,... OMIM:234050
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Trichothiodystrophy
High, narrow palate, Microcornea, Macular degeneration, Conjunctivitis, Neutropenia, Retinal dege... ORPHA:33364
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow... OMIM:312870
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thromboc... OMIM:277380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Micrognat... OMIM:236670
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Myhre Syndrome
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... ORPHA:2588
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Abnormal palmar dermatoglyphics, Cryptorchidism, Cleft palate, Hypoplasia of teeth... ORPHA:2728
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Leukocoria, Exudative retinopathy, Bone mar... OMIM:268130
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand OMIM:608257
Hermansky-Pudlak Syndrome 2
Thin upper lip vermilion, Absent platelet dense granules, Reduced natural killer cell activity, C... OMIM:608233
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem... OMIM:249000
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:3253
Tularemia
Leukocytosis, Oral ulcer, Anemia, Increased circulating antibody level, Conjunctivitis, Conjuncti... ORPHA:3392
Mend Syndrome
Cataract, Broad hallux, Overlapping fingers, Overlapping toe, Micrognathia, Asymmetry of the mout... ORPHA:401973
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Mevalonic Aciduria
Optic disc pallor, Failure to thrive, Normocytic hypoplastic anemia, Failure to thrive in infancy... OMIM:610377
Farber Disease
Corneal opacity, Abnormality of the hand, Thrombocytopenia, Short toe, Abnormality of the elbow, ... ORPHA:333
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Hypospadias, Rocker ... ORPHA:163979
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficie... OMIM:251260
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... ORPHA:2307
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... OMIM:166250
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Increased body weight, Downturned corners of mouth, C... ORPHA:398069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Microphthalmia, O... OMIM:615145
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Thrombocytopenia, Le... OMIM:259720
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, ... ORPHA:2162
Joubert Syndrome 14
Tented upper lip vermilion, Morning glory anomaly, Postaxial polydactyly, Optic atrophy, Cleft pa... OMIM:614424
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndacty... OMIM:264480
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, Broad thumb, Smooth philtrum, Br... OMIM:614526
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Postaxial hand polydactyly, Obesity, Pigm... ORPHA:110
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Micrognathia, Coloboma, Abnormal optic disc morphology, Short palm, Clinod... ORPHA:508498
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Optic atrophy, Anemia, Neutropenia ORPHA:289916
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Splenomegaly, Stillbirth, High palate, Neonatal death, T... ORPHA:85212
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Abnormality of the dentition, Palmoplantar hyperkeratosis, Leukope... OMIM:613989
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Fryns Syndrome
Tented upper lip vermilion, Hypospadias, Median cleft lip, Corneal opacity, Micrognathia, Cryptor... ORPHA:2059
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Hypoplasia of the maxilla, Bilateral microphthalmos, Coloboma, Clinoda... ORPHA:2399
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Dental crowding, Micrognathia, Cryptorchidism, Increased femo... OMIM:619005
17Q12 Microduplication Syndrome
Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate ORPHA:261272
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda... OMIM:620098
Cyclic Neutropenia
Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Oral ulcer, Gingiv... ORPHA:2686
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hypocellularit... ORPHA:88
Fryns Syndrome
Bifid scrotum, Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of... OMIM:229850
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Cataract, Toe syndactyly, Toe clinodactyly, Cryptorchidi... ORPHA:2308
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... OMIM:614171
Riddle Syndrome
Conjunctival telangiectasia, Weight loss, Decreased circulating total IgM, Chromosomal breakage i... ORPHA:420741
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl... OMIM:300863
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Turner Syndrome Due To Structural X Chromosome Anomalies
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... ORPHA:99413
Mosaic Monosomy X
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... ORPHA:99228
Monosomy X
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... ORPHA:99226
Turner Syndrome
Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, High palate, Hashimoto thyroid... ORPHA:881
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... OMIM:147250
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... ORPHA:1942
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Smooth philtrum, Increased mean platelet volume, Patent ductus arteriosus, Increased size of the ... OMIM:300048
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
22Q11.2 Deletion Syndrome
Impaired T cell function, Micrognathia, Short philtrum, Abnormality of the uterus, Hypoplasia of ... ORPHA:567
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Rhabdoid Tumor
Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Coo... OMIM:304790
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
X-Linked Intellectual Disability, Seemanova Type
Small for gestational age, Cryptorchidism, Developmental cataract, Hypogonadism, High palate, Ret... ORPHA:85323
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,... ORPHA:2166
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Hypoc... OMIM:615234
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Coloboma, High palate, Phocomelia, Wrist flexion contracture, Hype... OMIM:268300
Trichothiodystrophy 1, Photosensitive
Cataract, Small for gestational age, Retrognathia, Microcornea, Keratoconjunctivitis sicca, Hypog... OMIM:601675
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination... OMIM:308230
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Clef... OMIM:251230
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Triphalang... ORPHA:857
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, Hepatosplenomegaly, Inc... ORPHA:98850
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Sup... ORPHA:2108
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Optic atrophy, Anemia, Leukopenia, Thrombocytopenia ORPHA:27
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Abnormal dense granules, Thrombocytopenia, Splenomegal... OMIM:214500
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Carious teeth, Palmoplantar hyperkeratosis, Bone marrow hypocellul... OMIM:224230
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Poems Syndrome
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Metaphyseal ... ORPHA:2905
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... ORPHA:536471
Diamond-Blackfan Anemia 1
Micrognathia, Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Cleft upper lip, ... OMIM:105650
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Small for gestational age, Developmental cataract, Retinal calci... OMIM:127000
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Micrognathia, Persistence of primary ... ORPHA:2785
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Micrognathia, Cryptor... OMIM:613884
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:611490
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Hallux valgus, Dental crowding, Br... OMIM:614188
Joubert Syndrome 2
Retinal dystrophy, Postaxial hand polydactyly, Optic disc coloboma, Postaxial foot polydactyly, H... OMIM:608091
Faciocardiomelic Syndrome
Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender long bone, Poly... OMIM:612731
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Down-slopin... OMIM:109400
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Iris atrophy, Short metacarpal, Cleft upper lip, Optic atrophy, Cleft pala... OMIM:201180
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone mo... OMIM:302960
Prolidase Deficiency
Micrognathia, Thrombocytopenia, Splenomegaly, High palate, Increased circulating antibody level, ... OMIM:170100
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limbal dermoid, Mic... ORPHA:1791
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Felty Syndrome
Sinusitis, Thrombocytopenia, Splenomegaly, Weight loss, Bone marrow hypocellularity, Neutropenia,... ORPHA:47612
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Epispadias, Vitritis, Retinal ... ORPHA:2556
Skin Creases, Congenital Symmetric Circumferential, 2
Short palm, Thin upper lip vermilion, Small scrotum, Hypospadias, Micrognathia, Carious teeth, Cr... OMIM:616734
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Large f... ORPHA:77301
Pediatric-Onset Graves Disease
Keratitis, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Puber... ORPHA:525731
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
3-Methylglutaconic Aciduria, Type Viib
Cataract, Rhizomelia, Micrognathia, Trismus, Brachioradialis areflexia, Leukopenia, Neutropenia, ... OMIM:616271
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Rod-cone dystrophy, Optic atrophy, Thrombocytopenia, Long philtrum OMIM:617710
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... OMIM:619879
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Thrombocytopenia, Splenomegaly, Finger swelling, Increased circulat... OMIM:617591
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Micrognathia, Nephrogenic diabetes insipidus, Hip dysplasia, Failure t... OMIM:208085
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia OMIM:619644
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, A... ORPHA:2538
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia, Recurrent sinusitis, Decreased circulating antibod... OMIM:616576
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... ORPHA:90045
Cog4-Cdg
Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Vacterl With Hydrocephalus
Anophthalmia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microcorne... ORPHA:3412
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Ovotestis, Cleft palate, Hy... OMIM:309801
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... OMIM:206900
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Pterygium, Finge... OMIM:256520
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Microphthalm... ORPHA:2470
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Hypoplasia of the iris, Hypocalcification of dental enamel, Throm... ORPHA:169090
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Thrombocytopenia, Optic ... OMIM:612199
Propionic Acidemia
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:606054
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti... ORPHA:331206
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Aplasia/Hypopla... ORPHA:649
Curry-Jones Syndrome
Duplication of thumb phalanx, Lip pit, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial... OMIM:601707
Galloway-Mowat Syndrome 1
Cataract, Small for gestational age, Micrognathia, Optic atrophy, Hypoplasia of the iris, Wide mo... OMIM:251300
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi... ORPHA:1352
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R... OMIM:221900
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft lip, Patent ductus arteriosus, Optic... OMIM:616975
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Azoospermia, Decrease... ORPHA:300298
Gaucher Disease, Type I
Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of... OMIM:230800
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Quebec Platelet Disorder
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Recurr... OMIM:301078
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Cataract, Eosinophilia, C... OMIM:308300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Elevated circulating thyroid-stimulating hormone concentration, Increased circ... OMIM:256040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp... ORPHA:464329
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean co... OMIM:127550
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Charge Syndrome
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... OMIM:214800
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia OMIM:610651
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ... OMIM:613406
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... OMIM:272950
H Syndrome
Hallux valgus, Histiocytosis, Diabetes mellitus, Cleft upper lip, Microcytic anemia, Gingival ove... ORPHA:168569
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:277480
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Failure to thrive, ... ORPHA:3322
Sea-Blue Histiocytosis
Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Cleft uppe... ORPHA:50
Say-Barber-Miller Syndrome
Elbow flexion contracture, Micrognathia, Carious teeth, Cryptorchidism, Rod-cone dystrophy, Trans... ORPHA:3132
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Failure to thrive... OMIM:251110
Charge Syndrome
Bifid scrotum, Anophthalmia, Abnormal tibia morphology, Chorioretinal coloboma, Clinodactyly of t... ORPHA:138
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Septate vagina, Micrognathia, Hamartoma of tongue, Cleft lip, Short tibia, Postaxial... OMIM:617925
Gaucher Disease, Perinatal Lethal
Decreased body weight, Everted upper lip vermilion, Micrognathia, Thrombocytopenia, Splenomegaly,... OMIM:608013
Tufted Angioma
Anemia, Thrombocytopenia, Hemangioma of the lip ORPHA:1063
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Broad thumb, Hypodontia,... ORPHA:1236
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Carious teeth, Cryptorchid... OMIM:305000
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Delay... OMIM:619269
Proboscis Lateralis
Anophthalmia, External genital hypoplasia, Orofacial cleft, Abnormality of the maxillary sinus, M... ORPHA:141099
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:613845
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Small... ORPHA:2714
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Shwachman-Diamond Syndrome 2
Normocytic anemia, Metaphyseal widening, High palate, Metaphyseal irregularity, Neutropenia, Fail... OMIM:617941
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Recurrent aphthous stomatit... OMIM:150550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p... OMIM:612474
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Narrow mouth, Optic nerve hypoplasia, Decreased body weight OMIM:614833
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Microcornea, Epip... ORPHA:35173
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin... ORPHA:2658
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palat... OMIM:607597
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... OMIM:611561
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Boutonneuse Fever
Abnormal skin morphology of the palm, Increased circulating IgG level, Increased circulating IgM ... ORPHA:83313
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Thyroid hypoplasia, Aplasia of the thymus, Single transver... OMIM:620186
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Increased circulating IgA level, Enlarged polycysti... ORPHA:2298
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Cataract, Hypospadias, Macrodontia, Phimosis, Mi... OMIM:309500
Degcags Syndrome
Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Syndactyly, Hypospadias, Congenita... OMIM:619488
Cholesteryl Ester Storage Disease
Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hep... OMIM:278000
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Cachexia, Dee... ORPHA:647
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Thrombocytopenia, Weight loss ORPHA:79242
X-Linked Acrogigantism
Increased body mass index, Abnormal optic chiasm morphology, Decreased thyroid-stimulating hormon... ORPHA:300373
Skin Creases, Congenital Symmetric Circumferential, 1
Micrognathia, Long fingers, Cleft palate, Microcornea, High palate, Narrow mouth, Microphthalmia,... OMIM:156610
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Immunodeficiency 22
Failure to thrive, Thrombocytopenia, Retinal vasculitis, Decreased circulating total IgM, Decreas... OMIM:615758
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Snakebite Envenomation
Hypopituitarism, Gingival bleeding, Thrombocytopenia ORPHA:449285
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Williams-Beuren Syndrome
Hallux valgus, Diabetes mellitus, Failure to thrive in infancy, Down-sloping shoulders, Retinal a... OMIM:194050
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcornea, Keratoconju... ORPHA:1806
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Diabetes me... ORPHA:206572
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Pigmentary retinopathy, Neutropenia, Decreased methylmalo... OMIM:277400
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Failure to thrive... OMIM:251100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... ORPHA:79124
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Clino... ORPHA:73223
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Anemia,... ORPHA:100026
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower... OMIM:616920
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Microcornea,... OMIM:619539
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... ORPHA:284984
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Patent ductus arteriosus, Optic atrophy, H... ORPHA:505248
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:251000
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... OMIM:210250
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Postaxial foot polydactyly, Hypogonadism, ... OMIM:615989
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia... OMIM:612289
Immune Thrombocytopenia
Gingival bleeding, Thrombocytopenia ORPHA:3002
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Monosomy 9P
Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the dentition, Cryptorchid... ORPHA:261112
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Polydactyly, Microphthalmia OMIM:603194
Rodrigues Blindness
Microcornea, Microphthalmia, Tooth malposition, Sclerocornea OMIM:268320
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Abnormal pupi... ORPHA:261552
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Calcaneovalgu... ORPHA:2152
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Retinal colobo... OMIM:184705
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating an... ORPHA:77259
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Calcaneovalgu... ORPHA:261537
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... OMIM:615849
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Tapered finger, Splenomegaly, Gingival overgrowth, Alveolar ridge over... OMIM:301072
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Optic atrophy, Pigment... ORPHA:79282
Wiskott-Aldrich Syndrome
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Abnormality of the menstrual cycle, ... ORPHA:906
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus, Thr... OMIM:301050
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Optic disc pallor, 2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia,... ORPHA:468631
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Thrombocytopeni... ORPHA:167
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Micrognathia, Deep philtrum, Iron deficiency anemi... OMIM:300855
Combined Oxidative Phosphorylation Deficiency 55
Single transverse palmar crease, Anemia, High palate, Talipes equinovarus, Open mouth, Thrombocyt... OMIM:619743
Aicardi Syndrome
Retinal detachment, Prominence of the premaxilla, Cataract, Proximal placement of thumb, Cleft up... OMIM:304050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Hepatosplenom... OMIM:603553
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen, T... ORPHA:2072
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cl... OMIM:309800
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Vaginal neoplasm, Micrognathia, Cleft palate, Acute lymphoblastic leuk... ORPHA:1052
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5... ORPHA:1587
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Defective DNA repair after ultraviolet radiation damage, Keratoconjunctiviti... OMIM:278730
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Stevens-Johnson Syndrome
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Weight loss, Conjunct... ORPHA:36426
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Monosomy 22Q13.3
Dental crowding, Dental malocclusion, Obesity, Large hands, Clinodactyly of the 5th finger, Malar... ORPHA:48652
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Fetal Alcohol Syndrome
Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Microdontia, Microph... ORPHA:1915
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Cataract, Small for gestational age, Decreased... ORPHA:699
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Hip dislocation, High palate, Narrow mouth, Microphthalmia, Failure... OMIM:617729
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... OMIM:557000
Loeys-Dietz Syndrome 3
Cataract, Arachnodactyly, Protrusio acetabuli, Patent ductus arteriosus, Cystocele, Dental malocc... OMIM:613795
Brucellosis
Small for gestational age, Orchitis, Hypersplenism, Leukocytosis, Epididymitis, Thrombocytopenia,... ORPHA:1304
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Normochromic anemia, Small for gestational age, Thrombocytopenia OMIM:618775
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Carious teeth, Splenomegaly, Ret... ORPHA:90324
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Mycophenolate Mofetil Embryopathy
Micrognathia, Orofacial cleft, Foot polydactyly, Chorioretinal coloboma, Short palm, Microphthalm... ORPHA:268249
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Short philtrum, Hypoplastic spleen, Anemia OMIM:185070
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Corneal scarring, Devel... OMIM:309000
Frontonasal Dysplasia 2
Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum OMIM:613451
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Anemia,... ORPHA:540
Dengue Fever
Leukopenia, Gingival bleeding, Thrombocytopenia ORPHA:99828
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormality of the hum... ORPHA:3186
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract ORPHA:454831
Cat Eye Syndrome
Micrognathia, Absent radius, Patent ductus arteriosus, Cleft palate, Chorioretinal coloboma, Micr... OMIM:115470
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia OMIM:267700
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Bilateral microphthalmos, M... OMIM:601186
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Micrognathia, Absent external genitalia, Cleft upper ... OMIM:273395
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Thrombocytopenia, Neutropenia ORPHA:391673
Meckel Syndrome, Type 4
Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly, Cleft palate OMIM:611134
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Tented upper lip vermilion, Micrognathia, Clinodactyly, Widely-spaced maxillary ce... OMIM:309580
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Thymoma, Decreased circulating antib... ORPHA:169105
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Sepsis In Premature Infants
Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Neutropenia, Decreased b... ORPHA:90051
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Thrombocytopenia OMIM:617397
Aicardi-Goutieres Syndrome 1
Splenomegaly, Hypothyroidism, Diabetes insipidus, Thrombocytopenia OMIM:225750
Toxic Epidermal Necrolysis
Corneal erosion, Weight loss, Anemia, Conjunctivitis, Neutropenia, Abnormal vagina morphology, Th... ORPHA:537
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Digeorge Syndrome
Impaired T cell function, Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia... OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Micrognathia, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the ... OMIM:253280
Wars2-Related Combined Oxidative Phosphorylation Defect
Thin upper lip vermilion, Rod-cone dystrophy, High palate, Thrombocytopenia ORPHA:572798
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
Rift Valley Fever
Retinitis, Thrombocytopenia, Retinal hemorrhage, Macular edema, Retinal vasculitis, Increased cir... ORPHA:319251
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Sclerocornea, Microphthalmia, Fail... OMIM:300952
Phace Association
Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Developmental cataract, Congenit... OMIM:606519
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Clinoda... OMIM:113620
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polyda... OMIM:236680
Avian Influenza
Leukopenia, Lymphopenia, Conjunctivitis, Thrombocytopenia ORPHA:454836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Cleft upper lip, Peters anomaly, Cleft palate, Buphthalmos, Macroglossia, Persistent pu... OMIM:613150
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme... ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Failure to thrive, Thrombocytopenia, Hepatocellular necrosis OMIM:251880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Menorrhagia, Gin... ORPHA:274
Gaucher Disease, Type Ii
Splenomegaly, Trismus, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Fraser Syndrome 2
Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mouth, Ambiguous genitalia, Microphthalmia OMIM:617666
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Single transverse palmar crease OMIM:619053
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Thrombocytopenia ORPHA:99901
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment epithelial mot... OMIM:219800
Immunodeficiency 40
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia OMIM:616433
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Retinal calcificatio... OMIM:259770
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate OMIM:257910
Catastrophic Antiphospholipid Syndrome
Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, ... ORPHA:464343
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, ... ORPHA:306542
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Retrognathia, Thrombocytopenia ORPHA:457351
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Cleft palate, Polycystic ovaries, Microphthalmia, Megalocornea, F... ORPHA:137675
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis ORPHA:3310
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Thrombocytopenia, Leukoc... ORPHA:3260
Shigellosis
Failure to thrive in infancy, Leukocytosis, Conjunctivitis, Microangiopathic hemolytic anemia, Sp... ORPHA:810
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Erythrodontia, Splenomegaly, Corneal scarring, Conjunctivitis, Joint contractur... OMIM:263700
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate, Conjunctivitis, Recurrent ... OMIM:153400
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Mowat-Wilson Syndrome
Bifid scrotum, Delayed eruption of teeth, Cataract, Hypospadias, Cryptorchidism, Patent ductus ar... OMIM:235730
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight loss, Enla... ORPHA:79078
Bacterial Toxic-Shock Syndrome
Sinusitis, Increased circulating myelocyte count, Abnormality of the upper limb, Increased circul... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis in... ORPHA:464321
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Thrombocytopenia, Thyroiditis, Decreased circulating antibody lev... ORPHA:289390
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Gaucher Disease
Pancytopenia, Corneal opacity, Thrombocytopenia, Splenomegaly, Anemia, Increased circulating anti... ORPHA:355
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Bila... OMIM:610828
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Ne... ORPHA:391487
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Orchitis, Thrombocytopenia, Leukocytosis, Epididymitis, Splenomegaly,... ORPHA:99827
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Frontofacionasal Dysplasia
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Microphthalmia, Iris coloboma, Malar fla... OMIM:229400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Increased circulating antibody level, Thro... ORPHA:781
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Keratoconjunctiviti... ORPHA:79277
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Retinal vascular m... ORPHA:42775
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... ORPHA:244242
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... OMIM:175780
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Cleft soft palate, Hypersplenism, Splenomegaly, Pat... OMIM:301068
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Increased circulating antibody... OMIM:615846
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss ORPHA:160
Lujo Hemorrhagic Fever
Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia ORPHA:319213
Lysinuric Protein Intolerance
Thrombocytopenia, Splenomegaly, Truncal obesity, Leukopenia, Hemophagocytosis, Failure to thrive,... OMIM:222700
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Sarcoidosis
Hemolytic anemia, Cataract, Hyperthyroidism, Eosinophilia, Diabetes insipidus, Abnormal reproduct... ORPHA:797
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Adrenal hypoplasia, Diabetes ... OMIM:157170
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia OMIM:277900
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed puberty, Thromb... ORPHA:77261
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Tongu... ORPHA:297
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Micrognathia, Thrombocytopenia, Supernumerary tooth, Splenomegaly, Type I diab... OMIM:619525
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Adams-Oliver Syndrome 1
Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Microphthalmia, Imperforate h... OMIM:100300
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Failure to thrive, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Systemic Lupus Erythematosus
Hemolytic anemia, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral mucosa, Leukopenia, Re... ORPHA:536
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Orchitis, Neutrophilia in presence of infection, Leukopenia, Increa... ORPHA:99826
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Kikuchi-Fujimoto Disease
Thrombocytopenia, Splenomegaly, Oral ulcer, Weight loss, Enlargement of parotid gland, Leukopenia... ORPHA:50918
Liver Disease, Severe Congenital
Hypospadias, Micrognathia, Splenomegaly, Abnormal circulating thyroid hormone concentration, Pate... OMIM:619991
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepatosplenomegaly, Decr... ORPHA:470
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou... OMIM:154500
Tangier Disease
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly ORPHA:31150
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Cystic Fibrosis
Male infertility, Hepatosplenomegaly, Clubbing of fingers, Failure to thrive, Chronic sinusitis OMIM:219700
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Anemia, Decreased body weight ORPHA:340
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Developmental glaucoma, Chronic lymphati... ORPHA:51
Caroli Syndrome
Hypersplenism, Conjunctival icterus, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
Linear Nevus Sebaceus Syndrome
Microphthalmia, Iris coloboma ORPHA:2612
Alström Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious... ORPHA:64
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Diabetes mellitus, Thrombocytopenia ORPHA:544482
Leptospirosis
Papilledema, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular cotton wool spot, Conju... ORPHA:509
Holoprosencephaly 1
Adrenal hypoplasia, Micropenis, Microphthalmia, Cyclopia, Diabetes insipidus, Median cleft lip an... OMIM:236100
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hypersplenism, Splenom... ORPHA:77293
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Acute Liver Failure
Hepatic necrosis, Hepatocellular necrosis, Adrenal insufficiency, Hepatic periportal necrosis, Th... ORPHA:90062
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Autosomal Recessive Polycystic Kidney Disease
Micrognathia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:731
Craniofacial Microsomia 1
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Limbal dermoid, Partial d... OMIM:164210
Isolated Arrhinia
Microphthalmia, Hypoplasia of the nasal bone ORPHA:1134
Yellow Fever
Increased circulating IgM level, Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fanci

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fanci.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Fancitm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Fancitm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Fancitm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Fancitm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fancitm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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