Gene: Vps13b MGI:1916380

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Gene Summary

vacuolar protein sorting 13B
1810042B05Rik,  Coh1,  C330002D13Rik,  2310042E16Rik

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
increased startle reflex Vps13bem1(IMPC)Tcp HOM Early adult 2.74×10-05
increased total body fat amount Vps13bem1(IMPC)Tcp HOM Early adult 6.43×10-11
decreased exploration in new environment Vps13bem1(IMPC)Tcp HOM   Early adult 7.25×10-06
preweaning lethality, incomplete penetrance Vps13bem1(IMPC)Tcp HOM   Early adult 0.00
abnormal retinal blood vessel morphology Vps13bem1(IMPC)Tcp HOM Early adult 1.56×10-05
impaired glucose tolerance Vps13bem1(IMPC)Tcp HOM Early adult 3.71×10-05
increased mean corpuscular hemoglobin Vps13bem1(IMPC)Tcp HOM Early adult 6.79×10-05
abnormal lens morphology Vps13bem1(IMPC)Tcp HOM Early adult 5.29×10-08
decreased lean body mass Vps13bem1(IMPC)Tcp HOM Early adult 1.67×10-09
persistence of hyaloid vascular system Vps13bem1(IMPC)Tcp HOM Early adult 1.56×10-05
abnormal retinal vasculature morphology Vps13bem1(IMPC)Tcp HOM Early adult 1.56×10-05
short tibia Vps13bem1(IMPC)Tcp HOM Early adult 4.01×10-05
male infertility Vps13bem1(IMPC)Tcp HOM Early adult 0.00
decreased body length Vps13bem1(IMPC)Tcp HOM Early adult 8.64×10-08
decreased circulating alkaline phosphatase level Vps13bem1(IMPC)Tcp HOM Early adult 4.91×10-10
increased mean corpuscular volume Vps13bem1(IMPC)Tcp HOM Early adult 5.16×10-06

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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

88 Images

Eye Morphology

Images Ophthalmoscopy

34 Images


XRay Images Whole Body Lateral Orientation

10 Images



16 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Vps13b 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 Vps13b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Vps13b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
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
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
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 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Rod-cone dystrophy OMIM:300719
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, C... ORPHA:320391
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Acne ORPHA:3000
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cryptorchidism, Cataract OMIM:274205
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level... OMIM:240950
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Uveal Melanoma
Zonular cataract, Inferior lens subluxation, Mydriasis, Inflammatory abnormality of the eye, Reti... ORPHA:39044
Young Syndrome
Azoospermia, Bronchiectasis OMIM:279000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Retinal coloboma, External genital hypoplasia, Cataract, Hypogonadism, Rod-cone d... ORPHA:363741
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Nuclear cataract, Cataract, Premature ovarian i... ORPHA:79237
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract, Optic disc pallor OMIM:616732
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Nephritis, Pyelonephritis, Oligospermia OMIM:314300
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hypogonadism, Anemia, Spl... OMIM:615234
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Hypogonadism, Microcornea ORPHA:2528
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Neurofibromatosis, Type Ii
Juvenile posterior subcapsular lenticular opacities, Retinal hamartoma, Epiretinal membrane, Cort... OMIM:101000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Retinal coloboma, Cataract, Hypogonadism, Rod-cone dystrophy OMIM:601794
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Hypogonadism, Pigmentary retinopathy OMIM:268050
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Rhinitis OMIM:618300
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Micrognathia, Short thumb, Failure to thrive, Increased mean corpusc... OMIM:612561
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal testis morphology, C... ORPHA:791
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cryptorchidism, Cataract ORPHA:2489
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormality of t... ORPHA:637
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Cataract, Delayed puberty, Decreased testicular size... ORPHA:280679
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Clinodactyly, Syndactyly, Hypomethioninemia, Failure to thrive, Increa... ORPHA:2169
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogona... ORPHA:3085
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy ORPHA:3156
Cofs Syndrome
Cataract, Hypogonadism, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms, Chronic rhinitis, Bronchiectasis OMIM:618801
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Immotile sperm, Recurrent sinusitis, Absent central microtubular pair morphology ... OMIM:617091
Hemochromatosis, Type 4
Cataract, Osteoarthritis, Impotence OMIM:606069
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Hemochromatosis, Type 2A
Infertility, Azoospermia, Amenorrhea, Hypogonadotropic hypogonadism, Arthritis OMIM:602390
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia, Femoral bowing, Elbow f... OMIM:601559
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Neutropenia, Pancytopenia, Anemia, Leukopenia, Abnormality of finger, T... ORPHA:811
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Cataract, Decreased testicular size, Decreased respo... OMIM:300845
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Recurrent otitis media, Recurrent sinusitis, Rhinitis, ... OMIM:614874
16Q24.3 Microdeletion Syndrome
Hip dysplasia, Thrombocytopenia, Astigmatism, Optic nerve hypoplasia, Increased mean corpuscular ... ORPHA:261250
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Skin rash, Reduced sperm motility, Oligospermia,... ORPHA:330015
49,Xyyyy Syndrome
Developmental cataract, Male hypogonadism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:99330
Gapo Syndrome
Keratoconus, Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism, Optic atrophy ORPHA:2067
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:250994
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Cataract, Eczema, External genital hypoplasia OMIM:612947
Oslam Syndrome
Abnormality of neutrophils, Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean... ORPHA:2760
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Persistence of hemoglobin F, ... ORPHA:124
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Nuclear cataract OMIM:604307
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Pedal edema, Thrombocytopenia, Acute my... ORPHA:86839
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Reduced sperm motility, Bronchiectasis, Absent inner dynein arms, Immotile s... OMIM:613807
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Aplasia/hypoplasia... ORPHA:356961
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Chronic rhinitis, Male in... OMIM:612444
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Anterior subcapsular cataract, Posterior cortical cataract, Cerulean ... ORPHA:67036
Trichothiodystrophy 3, Photosensitive
Cataract, Decreased fertility, Erythroderma OMIM:616395
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens ORPHA:1381
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Perifoveal ring of hyperautof... OMIM:240300
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract, Retinal dystrophy OMIM:617547
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency, Acne ORPHA:99329
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... OMIM:616959
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Irregular menstruation, Retinal degeneration, Cataract, Ast... OMIM:615986
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Myotonic Dystrophy 1
Cataract, Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Wagr Syndrome
Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Displacement of th... ORPHA:893
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Werner Syndrome
Cataract, Hypogonadism, Diabetes mellitus, Retinal degeneration OMIM:277700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Majeed Syndrome
Microcytic anemia, Flexion contracture, Erythroid hyperplasia, Failure to thrive, Anemia of inade... OMIM:609628
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Genu valgum, Abnormality of iron homeostasis, Decreased mean corpu... ORPHA:231226
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Cataract, Microcornea, Hypogonadism, Zonular cataract, Annular pancreas OMIM:268400
Beta-Thalassemia Major
Hypochromic microcytic anemia, Genu valgum, Abnormality of iron homeostasis, Decreased mean corpu... ORPHA:231214
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Optic disc pallor ORPHA:3173
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism OMIM:302950
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Diamond-Blackfan Anemia 7
Neutropenia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Macrocytic anemia OMIM:612562
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
4H Leukodystrophy
Cataract, Delayed puberty, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Opti... ORPHA:289494
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Chronic otitis media, Pneumonia, Sinusitis, Abnormal cornea morphology, Chronic r... OMIM:244400
Erythrokeratodermia Variabilis
Skin rash, Abnormal testis morphology, Corneal opacity, Cataract, Diabetes mellitus ORPHA:317
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Decreased transferrin saturation, Incr... ORPHA:300298
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Cataract, Microcornea ORPHA:48431
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Laurence-Moon Syndrome
Cryptorchidism, Iris coloboma, Cataract, Type II diabetes mellitus, Hypoplasia of penis, Displace... ORPHA:2377
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Bloom Syndrome
Skin rash, Azoospermia, Oligospermia, Uveitis, Pneumonia, Otitis media, Cheilitis, Rhinitis, Diab... ORPHA:125
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligospermia OMIM:614813
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract OMIM:613730
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Cataract, Ambiguous genitalia, Hypoplasia of penis ORPHA:2772
Mevalonic Aciduria
Skin rash, Attenuation of retinal blood vessels, Nuclear cataract, Cataract, Morbilliform rash, O... OMIM:610377
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hypokalemia, Failure to thrive, Decreased mean corpuscular vol... OMIM:611590
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Iris coloboma, Patent ductus arteriosus, Retinal dystrophy, Microcor... ORPHA:251066
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Cataract ORPHA:1387
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Norrie Disease
Shallow anterior chamber, Retinal dysplasia, Cataract, Hypoplasia of the iris, Opacification of t... OMIM:310600
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Scleritis, Abnormal corne... ORPHA:67043
Peritonitis, Skin rash, Folliculitis, Pericarditis, Abnormal retinal morphology, Panniculitis, Ab... ORPHA:228123
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Corneal opacity, External genital hypoplasia, Pneumonia, Cataract, Decreased test... ORPHA:1867
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Cockayne Syndrome Type 2
Cryptorchidism, Developmental cataract, Male hypogonadism, Uveitis, Conjunctivitis ORPHA:90322
Dermatitis, Atopic
Keratoconus, Allergic rhinitis, Atopic dermatitis, Cataract, Conjunctivitis, Eczema, Recurrent sk... OMIM:603165
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Metatarsus adductus, Inte... ORPHA:96334
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Cryptorchidism, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, ... ORPHA:139471
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Cach Syndrome
Optic neuritis, Primary amenorrhea, Cataract, Secondary amenorrhea, Pancreatitis, Gonadal dysgene... ORPHA:135
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Apathy, Elevated circulating creatinine concentration, Norm... ORPHA:247691
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Retinal dots, Retinal d... OMIM:193230
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin, Co... ORPHA:846
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Scrotal hypoplasia, Cataract, Hypoplasia of penis, Decreased testicular size, Hyp... ORPHA:127
Warburg Micro Syndrome 3
Developmental cataract, Shallow anterior chamber, Scrotal hypoplasia, Cataract, Hypoplastic labia... OMIM:614222
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
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Cataract, Uterine leiomyoma, Vaginal neoplasm ORPHA:523
Cryptorchidism, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary amenorrhea,... ORPHA:352
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Developmental cataract, Dense posterior cortical cataract OMIM:309000
Autosomal Dominant Optic Atrophy, Classic Form
Temporal optic disc pallor, Hypothyroidism, Morning glory anomaly, Cataract, Diabetes mellitus, H... ORPHA:98673
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Irritability, Anemia, Splen... ORPHA:848
Marinesco-Sjögren Syndrome
Cataract, Hypogonadism, Optic atrophy, External genital hypoplasia ORPHA:559
Craniolenticulosutural Dysplasia
Cryptorchidism, Punctate cataract, Optic atrophy, Sutural cataract OMIM:607812
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Retinal degeneration, Retinal dystrophy... OMIM:209900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Galactosemia I
Hypergonadotropic hypogonadism, Cataract, Premature ovarian insufficiency OMIM:230400
Intermediate Uveitis
Macular scar, Vitreous haze, Vitreous snowballs, Cystoid macular edema, Epiretinal membrane, Opti... ORPHA:279914
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Cataract, Testicular atrophy, Secondary ameno... OMIM:157640
Warburg Micro Syndrome 2
Cryptorchidism, Developmental cataract, Scrotal hypoplasia, Hypoplastic labia majora, Cataract, M... OMIM:614225
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Cataract, Iris coloboma ORPHA:377
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Premature ovarian in... OMIM:609286
Transketolase Deficiency
Seborrheic dermatitis, Uveitis, Patent ductus arteriosus, Cataract, Conjunctivitis, Secondary ame... ORPHA:488618
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Corneal opacity, Cataract, Delayed puberty, Optic nerve hypoplasia, Optic atrophy ORPHA:496790
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Behcet Syndrome
Epididymitis, Iridocyclitis, Iritis, Genital ulcers, Chorioretinitis, Hypopyon, Erythema nodosum,... OMIM:109650
Walker-Warburg Syndrome
Cryptorchidism, Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnor... ORPHA:899
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Scrotal hypoplasia, Micropenis OMIM:610756
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Retinal dystrophy, Cataract, Optic nerve hypoplasia,... OMIM:610125
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Genital ulcers, Anterior uveitis, Colitis OMIM:616744
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Wolfram Syndrome 1
Pigmentary retinopathy, Hypothyroidism, Testicular atrophy, Diabetes mellitus, Diabetes insipidus... OMIM:222300
Omodysplasia 1
Hypoplastic distal humeri, Axillary pterygium, Limited knee extension, Rhizomelia, Short humerus,... OMIM:258315
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Chops Syndrome
Cryptorchidism, Patent ductus arteriosus, Cataract, Aspiration pneumonia, Optic atrophy OMIM:616368
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Irritability, Failure to... OMIM:618278
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Xeroderma Pigmentosum, Complementation Group B
Cataract, Hypogonadism, Optic atrophy, Pigmentary retinopathy OMIM:610651
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Micro Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Retinal coloboma, Clitoral hypoplasia, Catar... ORPHA:2510
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uveitis, Vitreoretinop... OMIM:193235
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Cataract, Elevated circulating parathyroid hormone leve... OMIM:612462
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Norrie Disease
Abnormal chorioretinal morphology, Cryptorchidism, Remnants of the hyaloid vascular system, Abnor... ORPHA:649
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Cushing Disease
Infertility, Cataract, Menorrhagia, Metrorrhagia, Recurrent skin infections, Diabetes mellitus, A... ORPHA:96253
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Short ribs, Short long bone,... OMIM:617925
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy ORPHA:1839
Congenital Hypothyroidism
Goiter, Hypothyroidism, Abnormality of reproductive system physiology, Thyroid dysgenesis, Catara... ORPHA:442
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... OMIM:119800
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Kapur-Toriello Syndrome
Cryptorchidism, Retinal coloboma, Iris coloboma, Patent ductus arteriosus, Hypoplastic labia majo... OMIM:244300
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Pigmentary retinopathy, Uveitis, Cataract, Conjunctivitis, Opt... ORPHA:90321
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Microcornea, Sclerocornea, Hypospadias, Precocious puberty OMIM:615877
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Lens subluxation, Retinal detachment ORPHA:171844
H Syndrome
Azoospermia, Bronchiectasis, Amenorrhea, Delayed puberty, Psoriasiform dermatitis, Chronic rhinit... ORPHA:168569
Spondyloocular Syndrome
Cataract, Retinal detachment, Unilateral cryptorchidism OMIM:605822
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract OMIM:302350
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Cataract, Thyroid adenoma, A... OMIM:615109
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Subcaps... ORPHA:414
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler... OMIM:612109
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Cataract, Elevated circulating parathyroid hormone leve... OMIM:103580
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Donnai-Barrow Syndrome
Iris coloboma, Retinal dystrophy, Hypoplasia of the iris, Cataract, Bicornuate uterus, Retinal de... OMIM:222448
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Neonatal death, Sm... OMIM:227270
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Cataract, Thyroid adenoma, A... OMIM:615108
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
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Pigmentary retinopathy, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Iris ... OMIM:309801
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive, Short toe, Talipes equ... ORPHA:98791
Primary Ciliary Dyskinesia
Bronchiectasis, Recurrent otitis media, Chronic otitis media, Female infertility, Abnormal sperm ... ORPHA:244
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Hyperg... OMIM:609441
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Cataract, Abnormal mitochondrial shape, Clitoral hypertrophy, Optic atrophy ORPHA:543470
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Cataract, Abnormality of the parathyroid gland, Retinal... ORPHA:2969
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Arthrogryposis And Ectodermal Dysplasia
Diabetes mellitus, Nuclear cataract OMIM:601701
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Papillorenal Syndrome
Retinal coloboma, Lens luxation, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Iris coloboma, Cataract, Vaginal atresia, Septo-optic dysplasia, Microcornea, Opt... ORPHA:3301
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Anterior chamber synechiae, Uveitis, Cataract, Knee osteoarthritis, Oligoar... ORPHA:85410
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Cataract, Ovarian carcinoma,... OMIM:158350
Werner Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Abnormal testis morphology, Decreased fert... ORPHA:902
Usher Syndrome
Astigmatism, Cataract, Abnormality of retinal pigmentation, Decreased fertility ORPHA:886
Muckle-Wells Syndrome
Skin rash, Uveitis, Conjunctivitis, Delayed puberty, Episcleritis, Recurrent aphthous stomatitis,... ORPHA:575
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Stillbirth, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broa... OMIM:228520
Shwachman-Diamond Syndrome 1
Metaphyseal widening, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Antiphospholipid Syndrome, Familial
Scleritis, Iritis, Central retinal artery occlusion, Retinal vasculitis, Keratitis, Retinal detac... OMIM:107320
Stiff-Person Syndrome
Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Anemia, Diabetes mellitus OMIM:184850
Blau Syndrome
Pericarditis, Iritis, Cystoid macular edema, Uveitis, Synovitis, Cataract, Nongranulomatous uveit... OMIM:186580
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Clinodactyly o... ORPHA:3320
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pedal edema, Hyperuricemia, Elevated circu... ORPHA:97214
Tetrasomy 9P
Abnormal chorioretinal morphology, Cryptorchidism, Infertility, Pericarditis, Oligospermia, Myosi... ORPHA:3310
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Hip dysplasia,... ORPHA:198
Whipple Disease
Pericarditis, Erectile dysfunction, Hypothyroidism, Uveitis, Encephalitis, Myocarditis, Myositis,... ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Buphthalmos, Retinal atrophy, Corneal opacity, Retinal dysplasia, Cataract, Megal... OMIM:236670
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Megalocornea, Opac... OMIM:164900
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis, Chordee, Cataract, Delayed puberty, Hypospadias, Diab... OMIM:176690
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cataract, Small hand, Retinal detachment, Sh... ORPHA:2714
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, C... ORPHA:64
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Omphaloc... OMIM:304120
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response, Pes cavus, Optic atrophy, Optic disc pallor OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Retinal dysplasia, Cataract, Exaggerated startle response, Retinal detachmen... OMIM:253800
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Uveitis, Glomerulonephritis, Anterior uveitis, Acute tubulointerstitial nephritis OMIM:607665
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Flexion contracture, Brachydactyly, Optic atrophy, Anemia, Talipes equin... ORPHA:847
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Stillb... OMIM:108720
Aniridia 1
Aniridia, Macular agenesis, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopig... OMIM:106210
Tay-Sachs Disease
Dementia, Apathy, Psychomotor deterioration, Exaggerated startle response, Cherry red spot of the... OMIM:272800
Cahmr Syndrome
Lamellar cataract OMIM:211770
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Cognitive impairme... ORPHA:309246
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Overlapping toe, Genu recurvatum, Flexion contracture, Exagge... OMIM:617301
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures, Pes cavus, Optic atrophy, Hyporeflexia... ORPHA:320406
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Alpha-Thalassemia Myelodysplasia Syndrome