Gene Summary

fibronectin type III domain containing 3A
1700094E19Rik,  F730017H24Rik,  D14Ertd453e,  Fndc3,  sys

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
impaired pupillary reflex Fndc3aem1(IMPC)Tcp HOM   Early adult 6.20×10-05
decreased bone mineral content Fndc3aem1(IMPC)Tcp HOM Early adult 5.90×10-13
cataract Fndc3aem1(IMPC)Tcp HOM   Early adult 3.04×10-05
male infertility Fndc3aem1(IMPC)Tcp HOM Early adult 0.00
decreased body length Fndc3aem1(IMPC)Tcp HOM   Early adult 2.34×10-05
short tibia Fndc3aem1(IMPC)Tcp HOM Early adult 5.80×10-10
abnormal bone structure Fndc3aem1(IMPC)Tcp HOM Early adult 9.07×10-07
abnormal retinal vasculature morphology Fndc3aem1(IMPC)Tcp HOM Early adult 1.91×10-06
decreased heart weight Fndc3aem1(IMPC)Tcp HOM Early adult 2.04×10-05
increased total body fat amount Fndc3aem1(IMPC)Tcp HOM Early adult 1.15×10-17
increased freezing behavior Fndc3aem1(IMPC)Tcp HOM Early adult 1.86×10-09
abnormal retinal blood vessel morphology Fndc3aem1(IMPC)Tcp HOM Early adult 2.86×10-06
decreased exploration in new environment Fndc3aem1(IMPC)Tcp HOM   Early adult 7.81×10-05
hypoactivity Fndc3aem1(IMPC)Tcp HOM   Early adult 4.96×10-07
decreased lean body mass Fndc3aem1(IMPC)Tcp HOM Early adult 1.62×10-18

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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.

Eye Morphology

Images Slit Lamp

96 Images

Eye Morphology

Images Ophthalmoscopy

107 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Fndc3a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fndc3a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Decreased fertility OMIM:158250
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Rod-cone dystrophy OMIM:300719
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Cognitive impairment, Brachydactyly, Rod-cone dystrophy, Obesity OMIM:615995
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Psychomotor deterioration, Concentric hypertrophic cardiomyopathy, Cataract, Progressiv... OMIM:204200
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia, Femoral bowing, Elbow f... OMIM:601559
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Dementia, Ataxia, Increased bone minera... OMIM:136300
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Classic Galactosemia
Osteoporosis, Postural tremor, Decreased fertility in females, Dystonia, Lethargy, Oligomenorrhea... ORPHA:79239
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Flexion contracture, Cataract, Irritability, Failure to thrive OMIM:617393
Inability to walk, Camptodactyly of finger, Abnormality of long bone morphology, Craniosynostosis... ORPHA:356961
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Dementia, Depression, Ataxia, Cataract, Cognitive impairment, Optic atrophy ORPHA:329314
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cone-shaped epiphysis, Ataxia, Retinal dystrophy, Cataract, ... ORPHA:3156
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Flattened femoral head, Waddling gait, Double-layered patella, Abn... ORPHA:166011
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Cataract, Lower limb undergrowth, ... OMIM:127200
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... OMIM:614500
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Delayed pubic bone ossification, Type E brachydactyly, Abnormal hip joint morpholo... ORPHA:1856
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Norrie Disease
Shallow anterior chamber, Aggressive behavior, Dementia, Hypoplasia of the iris, Cataract, Retina... OMIM:310600
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Micrognathia, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Toe syndactyly, Talipes, Genu recurvatum, Iris coloboma, Reduced... ORPHA:2611
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Irregular menstruation, Attenuation of retinal blood vessels, Polydac... OMIM:615986
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Asteroid hyalosis, Short phalanx of finger, Retinal thinning, Cataract, Epiphyseal d... OMIM:132450
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Cataract, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Self-mutilation, Aggressive behavior, Depression, Cataract, Irritability, Anxiety, Hyperactivity,... OMIM:261600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
1Q21.1 Microduplication Syndrome
Hip dysplasia, Arthrogryposis multiplex congenita, Cataract, Tetralogy of Fallot, Failure to thri... ORPHA:250994
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Tibial Aplasia-Ectrodactyly Syndrome
Postaxial hand polydactyly, Short femur, Preaxial hand polydactyly, Abnormality of femur morpholo... ORPHA:3329
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Peroxisome Biogenesis Disorder 8B
Ataxia, Retinal dystrophy, Cataract, Dysmetria, Failure to thrive, Cognitive impairment, Optic at... OMIM:614877
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract, Short thumb, Short metacarpal ORPHA:2489
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Truncal ataxia, Dementia, Abnormal sperm head morphology, Di... ORPHA:320391
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Osteoporosis, Enamel hypoplasia, Short metatarsal, Cataract, Short metacarpal, Cognitive impairme... OMIM:612463
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Spastic Paraplegia 5A, Autosomal Recessive
Limb dysmetria, Cataract, Spastic gait, Pes cavus, Cognitive impairment, Optic atrophy OMIM:270800
Postural tremor, Dystonia, Lethargy, Oligomenorrhea, Gait imbalance, Gait disturbance, Primary am... ORPHA:352
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract, Truncal obesity, Hypogonadism, Arachnodactyly OMIM:268050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Spli... OMIM:609945
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Limb dysmetria, Dementia, Head tremor, Ankle clonus, Cataract, Spastic gait, Pes cav... OMIM:614409
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Ataxia, Cataract, Microcornea, Dysmetria, Intention tremor... ORPHA:48431
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Autosomal Recessive Stickler Syndrome
Genu valgum, Abnormality of epiphysis morphology, Cataract, Vitreoretinopathy, Retinal detachment... ORPHA:250984
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy, Flexion contracture OMIM:613154
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Keloids, Cataract, Secondary... ORPHA:3085
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Atypical scarring of skin, Cataract, Abnormal r... ORPHA:791
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Aggressive behavior, Chorioretinal dysplasia, Retinal fold, Corneal opacit... OMIM:152950
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... OMIM:251190
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Metatarsus adductus, Inte... ORPHA:96334
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cognitive impairment, Cataract, Hypertrophic cardiomyopathy, Obesity OMIM:615418
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Leg muscle stiffness, Progressive gait ataxia, Limb ataxia, Ankle clonus, Catarac... ORPHA:284289
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Peroxisome Biogenesis Disorder 9B
Ataxia, Cataract, Pes cavus, Rod-cone dystrophy, Cardiomyopathy OMIM:614879
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Hypergonadotropic hypogonadism, Primary amenorrhea, Reduced bone mineral density, C... ORPHA:2410
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Halber... ORPHA:2635
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Progressive gait ataxia, Ataxia, Cataract, Dysmetria, Hypog... ORPHA:289494
Infantile Spasms-Broad Thumbs Syndrome
Broad thumb, Cataract, Micrognathia, Vaginal hernia, Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Ventricular septal defect, Rhizomelia, Bowing of the long bo... ORPHA:93267
Usher Syndrome Type 3
Iris hypopigmentation, Depression, Ataxia, Cataract, Anxiety, Astigmatism ORPHA:231183
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Difficulty walking, Toe walking, Ataxia, Emotional lability, Cataract, Spastic gait, Pe... OMIM:609195
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Usher Syndrome Type 1
Iris hypopigmentation, Abnormal dental enamel morphology, Depression, Ataxia, Cataract, Anxiety ORPHA:231169
Omodysplasia 1
Axillary pterygium, Hypoplastic distal humeri, Atrial septal defect, Ventricular septal defect, L... OMIM:258315
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Sandal gap, Cataract,... ORPHA:2725
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Scarring alopecia of... ORPHA:35173
Cushing Disease
Osteoporosis, Infertility, Bipolar affective disorder, Lethargy, Depression, Lipodystrophy, Catar... ORPHA:96253
Refsum Disease, Classic
Short fourth metatarsal, Ataxia, Retinal degeneration, Cataract, Pes cavus, Cardiomegaly, Rod-con... OMIM:266500
Kniest Dysplasia
Hypoplastic pelvis, Gait disturbance, Flattened, squared-off epiphyses of tubular bones, Dumbbell... OMIM:156550
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Cach Syndrome
Progressive neurologic deterioration, Arthrogryposis multiplex congenita, Truncal ataxia, Apathy,... ORPHA:135
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Depression, Apathy, Retinal neovascularization, Avascular n... ORPHA:247691
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Enam... OMIM:264700
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Abnormal bone ossification, Hemiatrophy of upper limb, Inc... ORPHA:163649
Classic Phenylketonuria
Tremor, Depression, Self-injurious behavior, Cataract, Motor deterioration, Memory impairment, Me... ORPHA:79254
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Flynn-Aird Syndrome
Dementia, Bone cyst, Ataxia, Cataract, Cachexia, Rod-cone dystrophy ORPHA:2047
Kniest Dysplasia
Lens luxation, Delayed epiphyseal ossification, Abnormal bone structure, Flexion contracture of f... ORPHA:485
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Enam... OMIM:277440
Rhizomelic Chondrodysplasia Punctata, Type 2
Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexion contracture, Short humerus... OMIM:222765
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:600081
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Flexion contracture, Retinal dysplasia, Cataract, Dila... ORPHA:272
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Cri-Du-Chat Syndrome
Self-mutilation, Short metatarsal, Aggressive behavior, Difficulty walking, Pes planus, Microretr... OMIM:123450
Marinesco-Sjögren Syndrome
Hip dysplasia, Abnormality of finger, Ataxia, Abnormality of the metacarpal bones, Cataract, Avas... ORPHA:559
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Atrial s... OMIM:263520
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Decreased calvarial ossification, Preaxial polydactyly, P... OMIM:617925
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Hyperg... OMIM:609441
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Stickler Syndrome Type 1
Abnormality of vertebral epiphysis morphology, Abnormality of epiphysis morphology, Abnormal vitr... ORPHA:90653
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:601794
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Short metatarsal, Short finger, Short metacarpal, Cataract, Shor... OMIM:103580
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Hypogonadism, Rod-cone dystrophy, Obesity ORPHA:363741
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Pes planus, Decreased body weight, Cataract, Long to... OMIM:605822
Usher Syndrome
Vestibular areflexia, Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Dep... ORPHA:886
Neuraminidase Deficiency
Epiphyseal stippling, Cataract, Inguinal hernia, Cardiomegaly, Dysmetria, Cherry red spot of the ... OMIM:256550
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Alpha-Mannosidosis, Adult Form
Depression, Corneal opacity, Ataxia, Cataract, Anxiety, Osteopenia, Optic disc pallor ORPHA:309288
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Cataract, Knee flexion contracture, Bicuspid aortic valve, Elbow fl... OMIM:184900
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, ... ORPHA:198
Bardet-Biedl Syndrome 1
Postaxial hand polydactyly, Rod-cone dystrophy, Ataxia, Retinal dystrophy, Astigmatism, Cataract,... OMIM:209900
Infantile Refsum Disease
Abnormality of epiphysis morphology, Ataxia, Cataract, Failure to thrive, Optic atrophy, Rod-cone... ORPHA:772
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Pigmentary retinopathy, Attenuation of retinal blood vessels, Camp... OMIM:609033
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Short metatarsal, Cataract, Short metacarpal, Cognitive impairme... OMIM:612462
Spondylo-Ocular Syndrome
Osteoporosis, Iris hypopigmentation, Ventricular septal defect, Pes planus, Cataract, Retinal det... ORPHA:85194
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Cortical subperiosteal resorption of humeral metaphyses, Increased bone densit... ORPHA:94089
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation,... ORPHA:171844
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia, Abnormal heart morphology OMIM:188740
Oculofaciocardiodental Syndrome
Genu valgum, Radioulnar synostosis, 2-3 toe syndactyly, Ectopia lentis, Iris coloboma, Flexion co... ORPHA:2712
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Talipes, Corneal opacity, Hypoplasia of the ulna, Catara... ORPHA:2557
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Micrognathia, Gait disturbance, Cataract, Optic nerve hypoplasia, Failure... ORPHA:163937
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Short 4th metacarpal, Short fifth metatarsal, Short 3rd metacarpal, Short meta... ORPHA:79444
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:241530
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, Rickets, Difficulty ... ORPHA:289157
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Epiphyseal stippling, Pigmentary retinopathy, Abnormal heart morphology, Campto... OMIM:614866
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Pate... OMIM:119800
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler... OMIM:612109
Congenital Sialidosis Type 2
Developmental cataract, Abnormal heart morphology, Polydactyly, Yellow/white lesions of the retin... ORPHA:93400
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism, Epiphyseal stippling, Short distal phalanx of finger OMIM:302950
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Abnormal tricuspid valve morphology, Craniofacial hyperostos... ORPHA:192
Werner Syndrome
Osteoporosis, Cataract, Hypogonadism, Retinal degeneration OMIM:277700
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Megalocornea, Opac... OMIM:164900
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Small for gestatio... OMIM:227270
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Abnormal cardiac septum morpholo... ORPHA:3320
Refsum Disease
Abnormality of retinal pigmentation, Abnormality of epiphysis morphology, Cardiomyopathy, Ataxia,... ORPHA:773
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Pes planus, Camptodactyly, Iliac crest serration, Flat ... OMIM:223800
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Congenital hip dislocation, Pes planus, Flexion contracture of toe, Umbilical herni... OMIM:255800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Wadd... OMIM:602111
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Increased bone... ORPHA:79443
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Corneal opacity, Progressive inability to walk, Cardiomegal... ORPHA:581
Juvenile Sialidosis Type 2
Abnormal heart morphology, Loss of ability to walk, Corneal opacity, Ataxia, Umbilical hernia, Ca... ORPHA:93399
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Short metacarpal ORPHA:627
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Subcaps... ORPHA:414
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Optic disc hypoplasia, Broad hallux phalanx, Iris coloboma... ORPHA:959
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asym... OMIM:608571
Autoimmune Hypoparathyroidism
Depression, Increased bone mineral density, Cataract, Conjunctivitis, Laryngeal dystonia, Irritab... ORPHA:36913
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Decreased... OMIM:600002
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Flexion contracture of finger, Pigmentary retinopathy, Gait disturbance, Camptodacty... ORPHA:88628
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Flared iliac wing, Hypoplastic frontal sinuses, Omphalocele, Increased bone mi... ORPHA:90652
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Finger syndactyly, Iris coloboma, Retinal dystrophy, Cataract, Microcorne... ORPHA:139471
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Proteus-Like Syndrome
Shagreen patch, Subcutaneous lipoma, Heterochromia iridis, Genu recurvatum, Hyperostosis, Catarac... ORPHA:2969
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Congenital hip dislocation, Micrognathia, Cataract, Osteopenia, Optic atrophy OMIM:617913
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Abnormal... OMIM:114290
Oculodentodigital Dysplasia
Abnormal dental enamel morphology, Abnormality iris morphology, Hyperostosis, Abnormality of the ... ORPHA:2710
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Congenital hip dislocation, Short metatarsal, Omphaloc... OMIM:304120
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Congenital Hypothyroidism
Abnormality of epiphysis morphology, Depression, Abnormal pericardium morphology, Umbilical herni... ORPHA:442
Weill-Marchesani Syndrome
Ventricular septal defect, Ectopia lentis, Cataract, Pulmonic stenosis, Aortic valve stenosis, Sh... ORPHA:3449
3Q29 Microdeletion Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Gait disturbance, Cataract, Anxiety,... ORPHA:65286
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
1Q21.1 Microdeletion Syndrome
Broad thumb, Hand polydactyly, Toe syndactyly, Depression, Broad hallux phalanx, Iris coloboma, C... ORPHA:250989
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Vogt-Koyanagi-Harada Disease
Cognitive impairment, Cataract, Retinal detachment ORPHA:3437
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Transketolase Deficiency
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Self-injurious behavi... ORPHA:488618
Werner Syndrome
Osteoporosis, Slender build, Abnormality of retinal pigmentation, Rocker bottom foot, Chondrocalc... ORPHA:902
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Ocular albinism, Ataxia, Reduced bone mineral density, Cataract, Abnormal ... ORPHA:2720
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Codas Syndrome
Enamel hypoplasia, Genu valgum, Developmental cataract, Squared iliac bones, Atrial septal defect... OMIM:600373
Weill-Marchesani Syndrome 2
Short metatarsal, Lens luxation, Thin bony cortex, Broad phalanges of the hand, Elbow flexion con... OMIM:608328
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Broad thumb, Broad hallux phalanx, Corneal opacity, Rapid ne... ORPHA:585
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori... OMIM:106210
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Depression, Head tremor, Resting tremor, Ataxia, Cataract, Memory impairment, Optic atrophy, Ment... ORPHA:314404
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Absent hand, Camptodactyly of finger, Osteolysis, Abnormal den... ORPHA:464
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Iris coloboma, Aplasia/Hypoplasia involving the pelvis, Cataract, Abnormally ossifi... ORPHA:3301
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Depression, Hypergonadotropic hypogonadism, Resting tremor, Primary amenorrhea, Brad... OMIM:157640
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Duane-Radial Ray Syndrome
Hypoplasia of the radius, Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia,... OMIM:607323
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
3Q29 Microduplication Syndrome
Aniridia, Craniosynostosis, Toe syndactyly, Camptodactyly of toe, Ventricular septal defect, Iris... ORPHA:251038
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Opacificati... OMIM:113470
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Micrognathia OMIM:619074
Alpha-Mannosidosis, Infantile Form
Genu valgum, Osteolysis, Craniosynostosis, Depression, Hypoplastic inferior ilia, Cortical thicke... ORPHA:309282
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Seckel Syndrome 1
Enamel hypoplasia, Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, El... OMIM:210600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, 3-4 toe syndactyly, Scarring alopecia of scalp, Sandal gap, Broad hallux, Ecto... OMIM:618727
Nail-Patella Syndrome
Keratoconus, Talipes equinovarus, Pes planus, Hypoplastic radial head, Microphakia, Iliac horns, ... OMIM:161200
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Abnormal thumb morphology, Mitral valve prolapse, Ventricular septal de... ORPHA:500095
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal... OMIM:236680
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Flexion contracture, Retinal dysplasia, Cataract, Pulm... OMIM:253800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Ventricular septal defect, Broad metatarsal, Ectopia lentis, Microspher... OMIM:277600
Cerebrotendinous Xanthomatosis
Osteoporosis, Dementia, Ataxia, Cataract, Optic disc pallor OMIM:213700
Cockayne Syndrome A
Tremor, Dementia, Pigmentary retinopathy, Irregular menstruation, Square pelvis bone, Gait distur... OMIM:216400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal proximal phalanx morphology of the hand, Broad thumb, Agoraphobia, Emotional lability, S... ORPHA:353281
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Autosomal Dominant Optic Atrophy And Cataract
Areflexia of lower limbs, Absent Achilles reflex, Anterior cortical cataract, Abnormal thumb morp... ORPHA:67036
Cystinosis, Nephropathic
Progressive neurologic deterioration, Genu valgum, Male hypogonadism, Pigmentary retinopathy, Ric... OMIM:219800
Classic Homocystinuria
Osteoporosis, Genu valgum, Abnormality of retinal pigmentation, Ectopia lentis, Cataract, Hernia,... ORPHA:394
Norrie Disease
Anterior chamber synechiae, Corneal opacity, Abnormal chorioretinal morphology, Remnants of the h... ORPHA:649
Aniridia-Absent Patella Syndrome
Aniridia, Inguinal hernia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Bowing of the long bones, Tibial b... ORPHA:140
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Sponastrime Dysplasia
Congenital aphakia, Hip subluxation, Metaphyseal irregularity, Pes planus, Flattened humeral epip... ORPHA:93357
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Polydactyly, Iris coloboma, Failure to thrive in infancy, Small for gestational age, Sho... ORPHA:268261
Cranioectodermal Dysplasia 1
Osteoporosis, Enamel hypoplasia, Short toe, Triphalangeal hallux, Broad toe, Rhizomelia, Short hu... OMIM:218330
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Fabry Disease
Conjunctival telangiectasia, Depression, Abnormal endocardium morphology, Abnormal aortic valve m... ORPHA:324
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
Tibial Hemimelia
Absent tibia OMIM:275220
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Ventricular septal defect, Cataract, Iris atrophy, Absent anterior chamber of the e... OMIM:259770
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibi... ORPHA:1827
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Metatarsus adductus, Cardiomegaly, Micrognathia, Aplasi... ORPHA:3472
Congenital Tufting Enteropathy
Corneal erosion, Optic disc coloboma, Punctate keratitis, Weight loss, Cataract, Irritability, Fa... ORPHA:92050
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Roberts Syndrome
Craniosynostosis, Sandal gap, Wrist flexion contracture, Phocomelia, Complete duplication of thum... ORPHA:3103
Marfan Syndrome
Pes planus, Camptodactyly, Metatarsus adductus, Mitral valve prolapse, Narrow foot, Micrognathia,... OMIM:154700
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Pigmentary retinopathy, Chordee, Ventricular septal defect, Iris coloboma, ... OMIM:309801
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cataract, Small hand, Retinal detachment, Sh... ORPHA:2714
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Atrial septal defect, Ventricular septal defect, Camptodactyly, Craniofacial ost... OMIM:300373
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Abnormality of retinal pigmentation, Tarsal synostosis, Pes planus, Short meta... OMIM:272460
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Absent hallux, Craniosynostosis, Cataract, Metatarsus adductus, Absent toe, Microcornea OMIM:608279
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Alzahrani-Kuwahara Syndrome
Self-mutilation, Atrial septal defect, Ventricular septal defect, Toe walking, Cataract, Coronary... OMIM:619268
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Bloom Syndrome
Azoospermia, Oligospermia, Micrognathia, Adipose tissue loss, Small for gestational age, Abdomina... ORPHA:125
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Tubul... OMIM:211910
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Failure to thrive... OMIM:619297
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal heart morphology, Ventricular septal defect, Cataract, Fibular hypoplas... ORPHA:444077
Noonan Syndrome 1
Cryptorchidism, Hypogonadism, Male infertility, Hypospadias OMIM:163950
Alström Syndrome
Hyoplasia of the Leydig cells, Puberty and gonadal disorders, Hyperinsulinemia, Oligospermia, Hyp... ORPHA:64
Cystic Fibrosis
Clubbing of fingers, Male infertility, Failure to thrive, Cor pulmonale OMIM:219700