Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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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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

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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.

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
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Failure to thrive, Dental malocclusion, Narrow palate, Ovarian neoplas... OMIM:617883
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus OMIM:615703
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Cleft palate, Small for gestationa... ORPHA:1617
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism ORPHA:393
Bardet-Biedl Syndrome 5
Macular dystrophy, External genital hypoplasia, Rod-cone dystrophy, Micropenis, Syndactyly, Brach... OMIM:615983
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... ORPHA:71289
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Syndactyly, Carious ... OMIM:613684
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the testis size, Decreased serum testosterone concentration, E... ORPHA:99330
Gombo Syndrome
Brachydactyly, Clinodactyly, Delayed puberty, Microphthalmia, Radial deviation of finger OMIM:233270
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology, Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnor... OMIM:614082
Fanconi Anemia, Complementation Group A
Neutropenia, Microphthalmia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonad... OMIM:227650
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
48,Xxyy Syndrome
Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Radioulnar synostosis, C... ORPHA:10
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Microcornea, Hypop... OMIM:257850
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, Coloboma, Delay... ORPHA:141333
Wt Limb-Blood Syndrome
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Ulnar deviation o... OMIM:194350
Fanconi Anemia, Complementation Group O
Chromosome breakage, Absent thumb, External genital hypoplasia, Hypoplasia of the radius, Small t... OMIM:613390
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Narrow palate, Type II diabetes mellitus, Corneal opaci... ORPHA:61
Bardet-Biedl Syndrome 11
Obesity, Retinopathy, Polydactyly, Hypogonadism OMIM:615988
Young Syndrome
Azoospermia OMIM:279000
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Fanconi Anemia, Complementation Group E
Neutropenia, Microphthalmia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonad... OMIM:600901
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Single transverse ... OMIM:210600
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Retrognathia, Microcornea, Cataract, Microphthalmia, Hypogonadism ORPHA:2528
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tooth malposition, Micropenis, Abnormality of dental morphology, Tapered fin... ORPHA:85274
Acrootoocular Syndrome
Decreased palmar creases, Cutaneous syndactyly, Delayed eruption of teeth, Pseudopapilledema, San... ORPHA:2980
48,Xyyy Syndrome
High palate, Dislocated radial head, Irregularly spaced teeth, Long philtrum, Radioulnar synostos... ORPHA:99329
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Elevated circulating parathyroid... OMIM:101800
Bardet-Biedl Syndrome 12
Obesity, Polydactyly, Rod-cone dystrophy, Hypogonadism OMIM:615989
Bloom Syndrome
Decreased circulating IgA level, Clinodactyly of the 5th finger, Decreased circulating IgG level,... OMIM:210900
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... ORPHA:752
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Decreased body weight, Short 5th finger, Short 3rd toe, Chromosomal breakage i... OMIM:619060
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Hypogonadism, Azoos... OMIM:615234
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, High palate, Short toe, Dental malocclusion, Narrow mouth, Open b... ORPHA:1327
Progeria-Short Stature-Pigmented Nevi Syndrome
Band keratopathy, Fragile teeth, Hypergonadotropic hypogonadism, Cataract, Selective tooth agenes... ORPHA:2959
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Mental Retardation, Buenos Aires Type
High palate, Failure to thrive, Wide mouth, Clinodactyly of the 5th finger, Dental malocclusion, ... OMIM:249630
Fanconi Anemia, Complementation Group F
Failure to thrive, Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasi... OMIM:603467
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary ax... ORPHA:2183
Mcdonough Syndrome
Dental malocclusion, Open bite, Cachexia, Short philtrum, Micrognathia, Bilateral single transver... ORPHA:2471
Fanconi Anemia, Complementation Group I
Decreased body weight, Microphthalmia, Decreased response to growth hormone stimulation test, Abs... OMIM:609053
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Failure to thrive, Anodontia, Dental malocclusion, Narrow palate, Supernumerary toot... OMIM:264475
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Ectopia ... OMIM:618727
Fanconi Anemia, Complementation Group C
Neutropenia, Microphthalmia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonad... OMIM:227645
Cofs Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Everted lower lip vermilion, Micrognathia, C... ORPHA:1466
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Muenke Syndrome
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Malar flatt... OMIM:602849
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularity, Chromosomal... OMIM:605724
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Abnormality of the dentition, Brachydactyly,... ORPHA:1858
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Small hand... OMIM:300845
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... ORPHA:436245
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dislocated radial head, Dental malocclusion, Flat capital femoral epiphysis, Joint c... OMIM:612350
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Bardet-Biedl Syndrome 4
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Abnormality of the dentiti... OMIM:615982
Pierpont Syndrome
Prominent fingertip pads, Microcornea, Microphthalmia, Decreased body weight, Prominent median pa... OMIM:602342
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Short thumb, Mi... OMIM:609054
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... OMIM:608940
Mulibrey Nanism
Dental malocclusion, Hypodontia, Thickened cortex of long bones, Pigmentary retinopathy, Astigmat... OMIM:253250
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
48,Xxxy Syndrome
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Radioulnar synostosis, Carious t... ORPHA:96263
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Polydactyly, Retinal dystrophy, Hypogonadism, Obesity OMIM:615987
Pierpont Syndrome
Short toe, Long upper lip, Prominent fingertip pads, Small for gestational age, Everted lower lip... ORPHA:487825
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening, Retinal dystrophy OMIM:616108
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Long fingers, Tapered finger, Mandibular prognathia OMIM:618292
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Small hand, Syndactyly, Narrow palm, Decreased circulating antibody leve... ORPHA:1445
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Microcornea, Radioulnar sy... ORPHA:2712
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Fanconi Anemia, Complementation Group D2
Absent thumb, Hypergonadotropic hypogonadism, Complete duplication of thumb phalanx, Microphthalm... OMIM:227646
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Cleft palate, Abnormality of the dentition, Primary amenorrhea, Sec... ORPHA:432
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Rod-cone dystrophy, Po... OMIM:615984
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Chromosome breakage... OMIM:609981
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Mmep Syndrome
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Microphthalmia, Mandibular prognat... ORPHA:3434
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Small hand, Thin vermilion border, Truncal obesity, Short foot, Decreased test... ORPHA:261483
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... OMIM:601957
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Micrognathia, Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Catarac... OMIM:616171
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Metacarpophalangeal joint hyperextensibility, Macroorchidi... OMIM:300624
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Wide mouth, Labial hypoplasia, Clinodactyly of the 5th finger, Ta... OMIM:619293
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, External genital hypoplasia, Cleft palate, Abnormality of the dentit... ORPHA:251028
Craniosynostosis 3
Single transverse palmar crease, Dental malocclusion, Hallux valgus, Brachydactyly OMIM:615314
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Median cleft palate, Microphthalmia OMIM:248110
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
49,Xxxxy Syndrome
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Radioulnar synostosis, Carious t... ORPHA:96264
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... OMIM:610023
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial duplication of ... OMIM:616331
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... ORPHA:2791
Short Syndrome
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Megalocornea, Delayed e... OMIM:269880
Cri-Du-Chat Syndrome
High palate, Microretrognathia, Short metacarpal, Small for gestational age, Hypospadias, Short p... OMIM:123450
Microphthalmia, Isolated 4
Coloboma, Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Warburg Micro Syndrome 1
Failure to thrive, Overlapping toe, Narrow mouth, External genital hypoplasia, Thin vermilion bor... OMIM:600118
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion OMIM:155050
Maternal Uniparental Disomy Of Chromosome X
Thin vermilion border, Primary gonadal insufficiency, Camptodactyly of finger, Ambiguous genitali... ORPHA:261519
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Rocker bottom foot, Microphthalmia OMIM:616570
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Femoral ... ORPHA:2563
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypo... ORPHA:363741
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Brachydactyly, High, narrow palate OMIM:619692
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Wide mouth, Dental malocclusion, Hypoplasia of penis, Malar flattening, Bifid scrotum, Everted lo... ORPHA:85321
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
8P11.2 Deletion Syndrome
High palate, Talipes equinovarus, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotro... ORPHA:251066
Mcdonough Syndrome
Dental malocclusion, Micrognathia, Short philtrum, Single transverse palmar crease, Furrowed tong... OMIM:248950
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea, Large for gestational age, Microphthalmia ORPHA:2432
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Intermediate Osteopetrosis
Dental malocclusion, Osteosclerosis of the base of the skull, Abnormality of the dentition, Hepat... ORPHA:210110
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Takenouchi-Kosaki Syndrome
Overlapping toe, Wide mouth, Dental malocclusion, Hypospadias, Short philtrum, Long philtrum, Tap... OMIM:616737
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Overlapping toe, Dental malocclusion, Velopharyngeal insufficiency, Mi... ORPHA:363444
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Metaphyseal dysplasia, Epiphyseal dysplasia, Malar flattening, Diaphyseal dysp... OMIM:614727
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hamamy Syndrome
High palate, Wide mouth, Down-sloping shoulders, Tapered finger, Hypoparathyroidism, Clinodactyly... OMIM:611174
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Abnormal external genitalia, Cleft pala... ORPHA:3473
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Premature Ovarian Failure 12
Macular dystrophy, Primary amenorrhea, Microphthalmia OMIM:616947
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Fanconi Anemia
High palate, Abnormality of femur morphology, Absent testis, Decreased fertility in males, Cleft ... ORPHA:84
Moebius Syndrome
High palate, Talipes equinovarus, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Abno... OMIM:157900
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iri... ORPHA:290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Harrod Syndrome
High palate, Failure to thrive, Dental malocclusion, Narrow mouth, Arachnodactyly, Hypospadias, A... ORPHA:2115
Fanconi Anemia, Complementation Group L
Chromosome breakage, Absent thumb, Bilateral talipes equinovarus, Micropenis, Cleft palate, Micro... OMIM:614083
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Obesity, Cryptorchi... OMIM:601794
Faciothoracogenital Syndrome
Prominent scrotal raphe, Micrognathia, Glandular hypospadias, Long philtrum, Shawl scrotum, Micro... OMIM:227320
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism ORPHA:242
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Genu varum, Iris coloboma... ORPHA:1777
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Adducted thumb, Developmental cataract, Decreased testicular size, Thromboc... OMIM:601815
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Narr... ORPHA:193
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... OMIM:300166
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Retrognath... ORPHA:280679
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... OMIM:136760
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Microcornea, Cataract, Micr... ORPHA:48431
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Flat capital femoral epiphysis, Cone-shaped epiphyses of the ... OMIM:190350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Downturned corners of mouth, Ambiguous genitalia, Rhizomelia, Abnor... ORPHA:93267
Potocki-Lupski Syndrome
High palate, Failure to thrive, Wide mouth, Dental malocclusion, Small for gestational age, Micro... OMIM:610883
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Hallux valgus OMIM:615541
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Retinal degeneration, Microphthalmia OMIM:251700
Sclerosteosis 1
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, Pa... OMIM:269500
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Incisor macrodontia, Wi... OMIM:619719
Microphthalmia With Brain And Digit Anomalies
High palate, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microcornea, Retinal d... ORPHA:139471
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslinking agents, An... OMIM:617243
Fanconi Anemia, Complementation Group B
Absent thumb, Micropenis, Hypergonadotropic hypogonadism, Aplastic anemia, Bilateral radial aplas... OMIM:300514
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Split foot, Microcornea, Oral cleft, Widely-spaced maxillary centr... OMIM:601349
Three M Syndrome 2
High palate, Dental malocclusion, Malar flattening, Small for gestational age, Short 5th finger, ... OMIM:612921
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Fragile X Syndrome
Mandibular prognathia, Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Congenital Disorder Of Glycosylation, Type Iig
High palate, Talipes equinovarus, Cleft palate, Small hand, Hypospadias, Micrognathia, Anemia, Ca... OMIM:611209
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Increased density of long bone diaphyses, Delayed eruption of teeth, G... OMIM:305620
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Long philtrum, De... OMIM:157980
Mccune-Albright Syndrome
Abnormality of femur morphology, Abnormal endocrine physiology, Ovarian cyst, Increased circulati... ORPHA:562
Hallermann-Streiff Syndrome
High palate, Optic disc coloboma, Cataract, Microphthalmia, Selective tooth agenesis, High, narro... OMIM:234100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long... ORPHA:85167
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Exudative vitreoretinopathy, Microphthalmia, Corneal opaci... ORPHA:2788
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, ... OMIM:212550
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Carious teeth, Pa... OMIM:613680
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Microphthalmia, Joint contracture of the hand, Small for gestational age, Thin... OMIM:214150
Bardet-Biedl Syndrome 19
External genital hypoplasia, Rod-cone dystrophy, Polydactyly, Hypogonadism, Obesity OMIM:615996
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Pigmentary retinopathy, Narrow palm, Truncal obesity, Cataract, Hypogonadism OMIM:268050
Noonan Syndrome 4
Wide mouth, Dental malocclusion, Blue irides, Large for gestational age, Cubitus valgus, Thick ve... OMIM:610733
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short f... OMIM:615546
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Limited pronation/supination of forearm, Cleft palate, Overlapping fingers, Con... OMIM:616738
Specific Granule Deficiency 2
Failure to thrive, Tooth malposition, Brachydactyly, Thrombocytopenia, Sandal gap, Conical tooth,... OMIM:617475
Ataxia-Telangiectasia
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Decreased circulating antibody level, ... ORPHA:100
Amed Syndrome, Digenic
Failure to thrive, Hypoplasia of the uterus, Leukopenia, Long thumb, Adrenal hypoplasia, Bone mar... OMIM:619151
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Ulnar deviation of the hand, Hypodontia, Central adrenal insufficiency, Ca... OMIM:612079
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Bilateral cleft lip and palate, Optic... ORPHA:1473
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Optic nerve misrouting, Foveal ... OMIM:609218
Trisomy 13
Cleft palate, Abnormality of the dentition, Optic atrophy, Cataract, Microphthalmia, High, narrow... ORPHA:3378
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Cockayne Syndrome A
Retinal pigment epithelial mottling, Square pelvis bone, Carious teeth, Hypoplastic pelvis, Optic... OMIM:216400
Bardet-Biedl Syndrome 22
Rod-cone dystrophy, Polydactyly, Large for gestational age, Postaxial foot polydactyly, Macular h... OMIM:617119
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Retrognathia, Clinodactyly, Microphthalmia, Pierre-Robin sequence, Thro... OMIM:619981
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Pelger-Huet Anomaly
Failure to thrive, Gingival overgrowth, Neutropenia, Median cleft palate, Abnormality of the dent... OMIM:169400
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Microphthalmia, Coloboma OMIM:274270
Martsolf Syndrome 1
High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Hypoplasia of the maxil... OMIM:212720
N Syndrome
Hypospadias, Cryptorchidism, Leukemia, Abnormality of chromosome stability OMIM:310465
Fibular Hemimelia
Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Cerebellofaciodental Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Macrodontia of permanent maxillary central i... OMIM:616202
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Elsahy-Waters Syndrome
High palate, Impacted tooth, Megalocornea, Delayed eruption of teeth, Hypoplasia of the maxilla, ... OMIM:211380
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Menorrhagia, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Micromelia, Microcornea, Genu valgum, Abnormal epiphysis ... ORPHA:800
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency OMIM:619518
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small for gestational age, Micrognathia, Camptodactyly of finger, Cat... OMIM:610756
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Ciliary Dyskinesia, Primary, 40
Infertility, Patent ductus arteriosus, Chronic sinusitis, Azoospermia, Absent outer dynein arms OMIM:618300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Spherophakia, Shallow anterior chamber, Malar flattening, Retro... OMIM:601552
Lessel-Kreienkamp Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Patent ductus arteriosus, Open mouth, Thin u... OMIM:619149
Radial-Renal Syndrome
Absent radius, Chromosome breakage, Absent thumb OMIM:179280
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... OMIM:251270
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
Cornelia De Lange Syndrome 5
High palate, Clinodactyly of the 5th finger, Cleft palate, Micropenis, Small hand, Retrognathia, ... OMIM:300882
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Oral cleft, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal ... OMIM:611638
Multiple Pterygium Syndrome, Escobar Variant
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Ulnar deviation of finger, R... OMIM:265000
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Cousin Syndrome
Ambiguous genitalia, female, Cleft palate, Microcornea, Rhizomelia, Absent proximal finger flexio... OMIM:260660
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Premature thelarche, Single... OMIM:180849
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Failure to thrive, Dental malocclusion, External genital hypoplasia, Micrognathia, O... ORPHA:329178
Bosma Arhinia Microphthalmia Syndrome
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Micropenis, Hypogonad... OMIM:603457
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Clitoral hypoplasia, Micrognathia, Agenesis of permanent teeth, L... OMIM:616894
Bardet-Biedl Syndrome 2
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Postaxial hand polydactyly... OMIM:615981
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate... OMIM:206920
Robinow Syndrome
External genital hypoplasia, Triangular mouth, Broad alveolar ridges, Clitoral hypoplasia, Bifid ... ORPHA:97360
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Down-sloping shoulders, Microdontia, Camptodactyly, Astigmatism, Widely spaced teet... OMIM:619694
Stuve-Wiedemann Syndrome 2
Neonatal death, Camptodactyly, Bowing of the long bones, Thrombocytopenia, Stillbirth, Short long... OMIM:619751
Cockayne Syndrome B
Microcornea, Square pelvis bone, Carious teeth, Hypoplastic pelvis, Optic atrophy, Microphthalmia... OMIM:133540
Zika Virus Disease
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Macular atrophy, Cho... ORPHA:448237
Nance-Horan Syndrome
Supernumerary tooth, Abnormality of the dentition, Retinal detachment, Microcornea, Cataract, Mic... ORPHA:627
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Harrod Syndrome
High palate, Failure to thrive, Dental malocclusion, Narrow mouth, External genital hypoplasia, H... OMIM:601095
Van Maldergem Syndrome 1
High palate, Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short f... OMIM:601390
Fanconi Anemia, Complementation Group T
Duplication of thumb phalanx, Pancytopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia... OMIM:616435
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology, Hypogonadism, Obesity, ... ORPHA:2233
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Retinal... ORPHA:209956
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Wide mouth, Dental malocclusion, Abnormality of the endocrine system, Hypospadia... ORPHA:487796
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal ge... ORPHA:1772
Baraitser-Winter Syndrome 1
Cleft upper lip, Failure to thrive, Wide mouth, Micropenis, Retrognathia, Long philtrum, Oral cle... OMIM:243310
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal femoral neck/head morphology, Slender finger, Cleft palate, Wide proximal f... ORPHA:163649
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Microphthalmia, Myopic astigmatism, Retinal detachment, Long philtrum, Microcorn... OMIM:152950
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Irregular menstruation, Brachyda... OMIM:615986
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia, Abnormality of the gingiva ORPHA:517
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Long philtru... OMIM:617877
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hypergonadotropic hypogonadism, Type I diabetes mellitus, Rocker b... OMIM:602782
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Limited mobility of proximal interphalangeal joint, Pig... OMIM:222300
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Wide mouth, Decreased circulating IgA level, Deep palmar crease, ... OMIM:616638
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion, Arachnodactyly, Slender toe, Cryptorchidism OMIM:310400
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia, Anemia, Thrombocytopenia, Failure to thrive ... ORPHA:858
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Leuk... OMIM:155100
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the upper limb, Optic a... ORPHA:1106
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Decreased mean corpuscular volume, Hepatosplenomegaly, Abnormality of the ... ORPHA:300298
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia, Cataract, Iris hypopigmentation ORPHA:67048
Fanconi Anemia, Complementation Group U
Chromosome breakage, Absent thumb, Hypoplasia of the radius, Absent scaphoid, Patent ductus arter... OMIM:617247
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Oral cleft, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia,... ORPHA:324416
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Coloboma, Cataract, Microphthalmia OMIM:120433
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ... ORPHA:3320
Focal Dermal Hypoplasia
Labial hypoplasia, Cleft palate, Congenital hip dislocation, Clitoral hypoplasia, Delayed eruptio... OMIM:305600
Apert Syndrome
Cleft palate, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Broad d... OMIM:101200
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Cheilitis, Abnormality of the dentition, Del... ORPHA:534
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Joint contracture of the hand, Chromosome breakage, Conjunctival... OMIM:208910
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Decreased palmar creases, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... ORPHA:2232
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Oral ulcer, Neutropenia, Thrombocytopenia, Folate-responsive megal... OMIM:229050
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Cockayne Syndrome
Corneal ulceration, Band keratopathy, Retinal degeneration, Retinal dystrophy, Carious teeth, Opt... ORPHA:191
Kapur-Toriello Syndrome
Cleft upper lip, Hypoplastic labia majora, Microphthalmia, Joint contracture of the hand, Cleft p... OMIM:244300
Urban-Rogers-Meyer Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Cryptorchidism, Micrognathia, Camptodactyly ... ORPHA:3409
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Roberts Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar sy... ORPHA:3103
Larsen-Like Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft palate, Malar fla... OMIM:608545
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... ORPHA:891
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... OMIM:278850
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Gingival bleeding, Macrothrombocyt... OMIM:231200
Spondyloenchondrodysplasia
Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Dental malocclusion, D... ORPHA:1855
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Frank-Ter Haar Syndrome
High palate, Wide mouth, Megalocornea, Bowing of the long bones, Short long bone, Talipes equinov... OMIM:249420
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Everted lower lip vermilion, D... ORPHA:181393
H Syndrome
Amenorrhea, Cleft upper lip, Gingival overgrowth, Histiocytosis, Micropenis, Hepatosplenomegaly, ... ORPHA:168569
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Joubert Syndrome 22
2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthal... OMIM:615665
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Acrodysostosis
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... ORPHA:950
2Q31.1 Microdeletion Syndrome
Cleft palate, Tapered finger, Optic disc coloboma, Abnormality of fibula morphology, Sandal gap, ... ORPHA:251014
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Delayed eruption of tee... OMIM:619148
Lig4 Syndrome
Clinodactyly of the 5th finger, Type II diabetes mellitus, Hypoplasia of penis, Leukocytosis, Thi... ORPHA:99812
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Small for gestational age OMIM:278780
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Cataract, Bilateral microphthalmos OMIM:608763
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypoplasia of penis, Abnormal retinal vasc... ORPHA:791
Microphthalmia, Syndromic 13
Microphthalmia, Diastema, Microcornea, Coloboma OMIM:300915
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Narrow palate, Shallow anterior chamber, Micropenis, Micrognathia... OMIM:614222
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Diaphyseal sclerosis, Persistence of primary teeth, Extramedullary hema... OMIM:259710
Martin-Probst Syndrome
Chordee, Wide mouth, Dental malocclusion, Malar flattening, Bifid scrotum, Micropenis, Micrognath... OMIM:300519
Microphthalmia, Lenz Type
Clinodactyly of the 5th finger, Hypospadias, Camptodactyly of finger, Abnormality of the dentitio... ORPHA:568
Schaaf-Yang Syndrome
Micropenis, Small hand, Open mouth, Retrognathia, Rocker bottom foot, Brachydactyly, Narrow palm,... OMIM:615547
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Developmental cataract, Gia... OMIM:153640
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Cat... OMIM:274000
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Microphthalmia, Eclabion, Cariou... OMIM:616395
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Chromosome breakage, Absent thumb OMIM:615272
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Abnormal macular morphology, Bone-marrow foam cells, Anemia... OMIM:607616
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Overlapping toe, Dental malocclusion, Cleft palate, Overlapping fingers, Long philtr... OMIM:618975
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Scapular win... OMIM:617258
Xk Aprosencephaly Syndrome
Narrow mouth, Abnormal morphology of the radius, Abnormal external genitalia, Microphthalmia ORPHA:3469
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Decreased body weight, Adducted thumb, Micrognathia, Flared metaphysis, C... OMIM:610758
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Talipes equinovarus, Lymphopenia, Hypergonadotropic... OMIM:617053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Talipes equinovarus, Hypodontia, Small for gestational age, Micropenis, Deep pal... OMIM:301056
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Clinodactyly of the 5th fi... OMIM:300373
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Talipes equinovarus, Anemia, Long philtrum, Neonatal death, Camptodactyly, Hyp... OMIM:608104
7Q11.23 Microduplication Syndrome
High palate, Dental malocclusion, Retrognathia, Hypospadias, Short philtrum, Micrognathia, Diaste... ORPHA:96121
Pelvis-Shoulder Dysplasia
Cleft palate, Microcornea, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes e... ORPHA:2839
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... OMIM:602668
Seckel Syndrome 2
Clinodactyly of the 5th finger, Small for gestational age, Hypospadias, Micrognathia, Microdontia... OMIM:606744
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Retinal degeneration, Rod-cone dystrophy, Short fourth metatarsal, Mi... OMIM:615994
Skin Creases, Congenital Symmetric Circumferential, 2
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