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Gene: Mettl5 MGI:1922672

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Gene Summary

Name:
methyltransferase 5, N6-adenosine
Synonyms:
2810410A08Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cranium morphology Mettl5em1(IMPC)Hmgu HOM Early adult 9.87×10-13
decreased hemoglobin content Mettl5em1(IMPC)Hmgu HOM Early adult 2.96×10-11
abnormal optic disk morphology Mettl5em1(IMPC)Hmgu HOM Early adult 6.28×10-08
decreased hematocrit Mettl5em1(IMPC)Hmgu HOM Early adult 1.82×10-07
abnormal retina morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.36×10-08
increased hematocrit Mettl5em1(IMPC)Hmgu HET   Early adult 2.51×10-05
decreased anxiety-related response Mettl5em1(IMPC)Hmgu HOM Early adult 3.45×10-09
abnormal iris morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.61×10-05
abnormal auditory brainstem response Mettl5em1(IMPC)Hmgu HOM   Early adult 3.51×10-10
iris synechia Mettl5em1(IMPC)Hmgu HOM Early adult 2.43×10-05
cataract Mettl5em1(IMPC)Hmgu HOM Early adult 5.67×10-05
decreased locomotor activity Mettl5em1(IMPC)Hmgu HOM Early adult 7.80×10-09
persistence of hyaloid vascular system Mettl5em1(IMPC)Hmgu HOM Early adult 5.16×10-08
abnormal behavior Mettl5em1(IMPC)Hmgu HOM Early adult 6.54×10-08
abnormal auditory brainstem response Mettl5em1(IMPC)Hmgu HET   Early adult 3.51×10-10
abnormal lens morphology Mettl5em1(IMPC)Hmgu HOM Early adult 4.65×10-06
increased grip strength Mettl5em1(IMPC)Hmgu HOM Early adult 3.43×10-05
increased spleen weight Mettl5em1(IMPC)Hmgu HOM Early adult 3.55×10-05
abnormal gait Mettl5em1(IMPC)Hmgu HET Early adult 6.19×10-05
abnormal retina vasculature morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.51×10-06
hyperactivity Mettl5em1(IMPC)Hmgu HOM Early adult 1.57×10-05
abnormal vitreous body morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.10×10-12
decreased vertical activity Mettl5em1(IMPC)Hmgu HOM Early adult 3.49×10-09
abnormal cornea morphology Mettl5em1(IMPC)Hmgu HOM   Early adult 1.10×10-05
increased grip strength Mettl5em1(IMPC)Hmgu HET Early adult 2.12×10-05
decreased blood urea nitrogen level Mettl5em1(IMPC)Hmgu HET Early adult 3.01×10-06
decreased thigmotaxis Mettl5em1(IMPC)Hmgu HOM Early adult 6.54×10-08
decreased erythrocyte cell number Mettl5em1(IMPC)Hmgu HOM Early adult 4.28×10-08
abnormal head morphology Mettl5em1(IMPC)Hmgu HOM Early adult 6.15×10-08
decreased body length Mettl5em1(IMPC)Hmgu HOM Early adult 2.67×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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Human diseases caused by Mettl5 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 Mettl5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 72
Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Prominent nose, Broad nasal tip, L... OMIM:618665
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512

The table below shows human diseases predicted to be associated to Mettl5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance ORPHA:2572
Ceroid Lipofuscinosis, Neuronal, 9
Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy OMIM:609055
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Sensorineural hearing impairment, Iris cyst, Optic atrophy OMIM:620086
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment OMIM:274205
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, EEG abnormality, Chorioretinal coloboma, Hearing impairment ORPHA:2732
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Hearing impairment, Cataract OMIM:300719
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy OMIM:311050
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Optic atrophy, Depression, Adult onset sensorineural hearing impairment, Dyspha... ORPHA:329314
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Dysdiadochokinesis, Optic atrophy OMIM:108650
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-co... OMIM:204200
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Hyperlysinemia, Type I
Hyperactivity, Anemia, Ectopia lentis OMIM:238700
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Hearing impairment OMIM:617717
Spastic Paraplegia 43, Autosomal Recessive
Loss of ambulation, Optic atrophy, Gait disturbance OMIM:615043
Morm Syndrome
Hyperactivity, Cataract, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, Gait ataxia, Inappropriate laughter,... OMIM:619323
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Sensorineural hearing impairment, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneration, Irritability, EE... OMIM:256730
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Optic atrophy, Cataract OMIM:620312
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Depression, Progressive heari... OMIM:614296
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Intermediate Uveitis
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... ORPHA:279914
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Ataxia, EEG with generalized polyspikes OMIM:614706
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... OMIM:221900
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc... OMIM:204000
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... OMIM:619260
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Ravine Syndrome
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... ORPHA:1473
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Cln3 Disease
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atro... ORPHA:228346
Atypical Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Optic atrophy, Depression, Irritability, Gait disturbance, Compulsive behaviors, Dys... ORPHA:216873
Spermatogenic Failure 17
Male infertility OMIM:617214
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Cataract OMIM:615995
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity, Optic atrophy, Coloboma OMIM:274270
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... ORPHA:280921
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Optic atrophy, Pigmentary retinopathy, EEG abnormality, Retinopathy OMIM:610951
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy OMIM:300983
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Severe temper tantrums, Optic atrophy, Spastic gait OMIM:619052
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Iris hypopigmentation, Aggressive behavior, Progressive ... ORPHA:97229
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... OMIM:614195
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Depression, Pigmentary retinopathy, Abnormality of the liver, Rod-cone dystrophy OMIM:614307
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... OMIM:616108
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairm... OMIM:310600
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Ataxia, Dysphagia ORPHA:1171
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Abnormal pinna morphology, Congenital sensorineural hearing impairm... ORPHA:411590
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, ... OMIM:614504
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Choreoathetosis, Neutropen... ORPHA:79312
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith... OMIM:619389
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Anorexia, Megaloblastic anemia, Sensorineural hearing impairment, Optic atroph... ORPHA:49827
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... OMIM:261600
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Inability to walk, Optic atrophy, Hypsarrhythmia, Dysphagia OMIM:617086
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Anorexia, Posterior uveitis, Papilledema, Anteri... ORPHA:91500
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Irritability, Bilateral sensorineural hearin... OMIM:264470
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari... ORPHA:65
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Sensorineural hearing impairment, O... OMIM:222300
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dys... ORPHA:324737
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Striatonigral Degeneration, Infantile
Choreoathetosis, Optic atrophy, Dysphagia OMIM:271930
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysmetria, Hepatosplenomegaly, Lo... ORPHA:93399
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Multifocal epileptiform discharges, Choreoathetosis, Irritability, Hearing impairment OMIM:609056
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Usher Syndrome Type 3
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Asti... ORPHA:231183
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Ataxia, Corneal opacity, Mixed hearing impairment, Hep... ORPHA:309288
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at... OMIM:612674
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the antihelix, Hea... ORPHA:2489
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-to... OMIM:614877
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Optic a... ORPHA:52368
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Ataxia, Congenital hepatic fibr... ORPHA:3156
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... OMIM:311070
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking OMIM:619425
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... ORPHA:168491
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance ORPHA:3151
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Mucolipidosis Iv
Corneal opacity, Abnormal abdomen morphology, Optic atrophy, Opacification of the corneal stroma,... OMIM:252650
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Ataxia, Inability to walk, Multifocal epileptiform discharges, Limb ataxia, Hy... OMIM:617166
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Inability to walk, Sensorineural hearing impairment, Optic atrophy OMIM:618768
Severe Canavan Disease
Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy ORPHA:314911
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Hearing impairment OMIM:120433
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Spinocerebellar Ataxia 7
Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop... OMIM:164500
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, EEG abnormal... ORPHA:457205
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Combined Saposin Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:611721
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abn... ORPHA:1215
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Cofs Syndrome
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Cataract, Optic atrophy ORPHA:1466
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Microcornea, Anterior synechiae of the anterior chamber, Gait d... ORPHA:3214
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
4H Leukodystrophy
Cataract, Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Dysphagia ORPHA:289494
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, EEG abnormality, Gait disturbance, Retinal dysplasia ORPHA:272
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Cataract, Ataxia, Morning glory anomaly, Sensorineural hearing impairment, Opt... ORPHA:98673
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Macrotia, Gait apraxia, Optic atroph... OMIM:617302
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability OMIM:613672
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy, Depression OMIM:248000
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Ataxia, Sensorineural hearing impairment, Macular dy... ORPHA:225
Cach Syndrome
Cataract, Optic atrophy, Limb ataxia, Dysmetria, Dysphagia, Irritability, Hepatosplenomegaly, Opt... ORPHA:135
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Merrf
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:551
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Pseudobulbar paralysis, Hearing impairment, Attenuation of retinal blood vessels OMIM:617082
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Depression, Bradykinesia, Optic... ORPHA:254886
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Sensorineural hearing impairment, Optic atrophy, Limb dysmetria, Spastic gait OMIM:270800
Usher Syndrome Type 1
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Iris... ORPHA:231169
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Choreoathetos... OMIM:300438
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia, Iri... ORPHA:411515
Stickler Syndrome, Type V
Retinal detachment, Sensorineural hearing impairment, Vitreoretinopathy, Cataract OMIM:614284
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Prune1-Related Neurological Syndrome
Cataract, Inability to walk, Optic atrophy, EEG abnormality, Low-set ears, Retinopathy ORPHA:544469
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... OMIM:609033
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia ORPHA:104
Leber Optic Atrophy And Dystonia
Optic atrophy, Bradykinesia, Athetosis, Leber optic atrophy, Dysphagia OMIM:500001
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior ORPHA:208441
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Cataract, Ataxia, Optic atrophy, Uveitis, Anem... ORPHA:90321
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atrophy, Gait disturban... ORPHA:163937
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... ORPHA:644
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Dysmetria, Astigmatism, Loss of ambulation, Spastic gait OMIM:616680
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Low-set ears, Dysphagia OMIM:612379
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder OMIM:617113
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Infantile Refsum Disease
Hepatomegaly, Cataract, Ataxia, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Ro... ORPHA:772
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Dysphagia, Gait ataxia OMIM:620221
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Ectopia ... ORPHA:96125
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Rod-cone dystrophy, Ataxia, Cataract OMIM:136300
Congenital Hydrocephalus
Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Macular hypoplasia, Ir... ORPHA:2185
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... OMIM:615516
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h... ORPHA:44
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment ORPHA:1186
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Optic atrophy, Dysphagia, Choreoathetosis, Bilateral sensorineural hearing impairment, Br... OMIM:619422
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ... OMIM:249270
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Polydipsia, Rod-cone dystrophy, P... OMIM:615986
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Inability to walk, Optic atrophy, Protruding ear, Macrotia OMIM:617481
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Hip contracture, Flexion contracture of finger, Failure to thrive, Small f... OMIM:193700
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Leukop... ORPHA:27
3-Methylglutaconic Aciduria Type 4
Hearing impairment, Cataract, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysmetria,... OMIM:601338
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Developmental cataract, Pro... OMIM:620185
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... OMIM:615075
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developm... OMIM:617183
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Cataract, Hepatomegaly ORPHA:79238
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia, Posteriorly rotated ears, Flu... OMIM:610377
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia, Lethargy, Pancreatit... ORPHA:289916
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Limb ataxia, Dysmetria, Tortuosity of conjunctival vessels, Macular degeneration, Progr... ORPHA:284289
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Splenomegaly, Cataract, Ataxia ORPHA:29
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Abnormal pupil morphology, Per... ORPHA:101082
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysmetri... ORPHA:93400
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Sensorineural hearing impairment, Vitreoretinopathy, Astigmatism ORPHA:250984
Hsd10 Disease
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia, Hearing impairment ORPHA:391417
Sialidosis Type 1
Cataract, Ataxia, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Sensorineur... ORPHA:812
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior ORPHA:329284
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Developmental And Epileptic Encephalopathy 93
Inability to walk, Optic atrophy, Hypsarrhythmia, Gait disturbance, Iris coloboma OMIM:618012
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Triple A Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Axenfeld-Rieger Syndrome, Type 3
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... OMIM:602482
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokine... ORPHA:254881
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, EEG abnormality ORPHA:3173
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Cerebrotendinous Xanthomatosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve... ORPHA:909
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Low-set ears, Dysphagia OMIM:619527
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Sarcosinemia
Emotional lability, Optic atrophy, Infantile sensorineural hearing impairment, Ataxia ORPHA:3129
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto... ORPHA:79239
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Optic atrophy, Athetosis, Irritability, Gait disturbance, Loss of ambulation OMIM:618241
Lissencephaly 5
Cataract, Optic atrophy, Hearing impairment OMIM:615191
Leukodystrophy, Hypomyelinating, 22
Inability to walk, Optic disc pallor, Astigmatism OMIM:619328
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Atelis Syndrome 1
Cataract, Thrombocytopenia, Leukopenia, Microtia, Attention deficit hyperactivity disorder, Anemia OMIM:620184
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Retinal dystrophy, Hearing ... OMIM:617052
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Progressiv... OMIM:607115
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Irritabili... ORPHA:848
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cataract, Dysmetria, Dysphagia OMIM:619780
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Neuraminidase Deficiency
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sensorineural hearing... OMIM:256550
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Sensorineural hearing impairment, Optic atrophy, Multifocal epileptifor... ORPHA:79097
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Emotional lability ORPHA:254343
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Senso... ORPHA:585
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia, Irritability OMIM:616881
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem... OMIM:611490
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gait... ORPHA:1947
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Dysph... OMIM:614707
Behr Syndrome
Ataxia, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Dysphagia, Gait distur... OMIM:210000
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Abnormal repetit... ORPHA:649
Leber Congenital Amaurosis 14
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Hepatosplenomegaly, Gait ataxia, Progressive cerebellar ataxia, Hepatic fibrosis ORPHA:466794
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Depression, Pigmentary retinopathy, Dysphagia, Los... ORPHA:79264
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria, Hearing i... OMIM:605259
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Stickler Syndrome, Type Ii
Retinal detachment, Sensorineural hearing impairment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Abno... OMIM:598500
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Hypsarrhythmia, EEG with multifocal slow activ... ORPHA:442835
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... ORPHA:401777
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Emotional lability, Gait disturbance, Lethargy OMIM:603896
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Spinocerebellar Ataxia Type 1
Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait d... ORPHA:98755
Muscle-Eye-Brain Disease
EEG abnormality, Cataract, Optic atrophy, Gait disturbance ORPHA:588
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Ataxia, Optic atrophy, Irritability, Dysphagia, Lethargy OMIM:618226
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait ORPHA:99013
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G... ORPHA:496790
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy, Prelingual sensorineural hearing impairment OMIM:618632
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Impulsivity, Acanthocytosis, Optic atrophy, Depression, Choreoathetosis, ... ORPHA:157850
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... OMIM:271245
Alg8-Cdg
Cataract, Ataxia, Thrombocytopenia, Optic atrophy, Low-set ears, Ascites, Retinopathy, Anemia ORPHA:79325
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Ataxia, Posteriorly rotated ears, Aggressive behavior, Optic atroph... OMIM:619833
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
3-Methylglutaconic Aciduria Type 9
EEG abnormality, Optic atrophy, Hypsarrhythmia, Aggressive behavior ORPHA:505216
Refsum Disease, Classic
Cataract, Ataxia, Cardiomegaly, Sensorineural hearing impairment, Rod-cone dystrophy, Retinal deg... OMIM:266500
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Peters anomaly, Optic atrophy, Dysphagia, Self-injurious behav... ORPHA:494344
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Hepatomegaly OMIM:613730
Angelman Syndrome
Keratoconus, Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Ina... ORPHA:72
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... OMIM:610743
Stickler Syndrome Type 1
Retinal detachment, Sensorineural hearing impairment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Cockayne Syndrome A
Hepatomegaly, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked ... OMIM:216400
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly,... ORPHA:1451
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity, Hearing impairment ORPHA:99014
Idiopathic Intracranial Hypertension
Papilledema, Pulsatile tinnitus, Depression, Abnormal emotion, Lethargy ORPHA:238624
Achondrogenesis Type 2
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Lens subluxation, Hearing impai... ORPHA:93296
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Isolated Atp Synthase Deficiency
Hepatomegaly, Cataract, Ataxia, Sensorineural hearing impairment, Optic atrophy, Lethargy, Rod-co... ORPHA:254913
Nephronophthisis 11
Anisocoria, Hepatic fibrosis, Polydipsia, Retinal degeneration, Anemia OMIM:613550
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Myoclonus, Intractable, Neonatal
Optic disc pallor, Athetosis, Impaired oral bolus formation, Dysphagia OMIM:617235
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Cataract, Microcytic anemia, Hepatic steatosis, Pancreatitis OMIM:618805
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Infantile Cerebellar-Retinal Degeneration
Retinal dystrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Athetosis OMIM:614559
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Low frustration ... ORPHA:363686
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality OMIM:617810
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Optic atrophy, Dysmetria, Athetosis, Rod-con... OMIM:617710
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Ataxia, Axonal degeneration, Gait ataxia, Pigm... ORPHA:88628
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Irritability, L... ORPHA:401866
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... OMIM:607259
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Att... ORPHA:216866
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract, B lymphocytopenia OMIM:619851
Peroxisome Biogenesis Disorder 11B
Cataract, Hearing impairment, Hepatosplenomegaly OMIM:614885
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... ORPHA:35069
Cri-Du-Chat Syndrome
Hyperactivity, Cataract, Abnormal pinna morphology, Hearing impairment, Aggressive behavior, Opti... OMIM:123450
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... ORPHA:2969
Myopathy With Extrapyramidal Signs
Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Splenomegaly, Leukocytosis, Op... OMIM:615673
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Ataxia, Optic disc pallor, Irritability OMIM:615281
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... OMIM:617101
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Cockayne Syndrome B
Hepatomegaly, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Abnor... OMIM:133540
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Bilateral sensorineural he... OMIM:620089
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia ORPHA:1177
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract ORPHA:363741
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Rod-co... ORPHA:391428
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Thickened heli... ORPHA:2714
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ataxia, Optic atrophy, Unilateral facial palsy, Astigmatism, Rod-cone dystrophy, Hearing impairment OMIM:618547
Arts Syndrome
Hearing impairment, Optic atrophy, Ataxia, Dysphagia OMIM:301835
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Optic atrophy, Uveitis, Conjunctivitis, Progressive sensorineural hea... ORPHA:575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
3-Methylglutaconic Aciduria, Type I
Athetosis, Optic atrophy, Self-mutilation, Ataxia OMIM:250950
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cataract, Ataxia, Depression, Pigmentary retinopathy, Cholestatic liver dis... ORPHA:79095
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract OMIM:601794
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Ataxia, Splenomegaly, Sensorineural hearing impair... ORPHA:773
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... OMIM:268315
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Thromb... OMIM:259720
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Ataxia, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the iris, E... ORPHA:2479
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Cln5 Disease
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns... ORPHA:228360
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Decreas... OMIM:214500
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Mi... OMIM:614643
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Protruding ear ORPHA:627
Walker-Warburg Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Poster... ORPHA:899
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Ataxia, Pseudobulbar paralysis, Difficulty walking, Abnormality of c... OMIM:213700
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Low-set... ORPHA:423479
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... ORPHA:98794
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration ORPHA:3233
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss of ambulation ORPHA:225154
Krabbe Disease
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality,... OMIM:245200
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529799
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Hearing impairment, Aggressive behavior ORPHA:369939
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Emotional lability, Corneal ulceration, Abnormal auto... OMIM:256800
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... ORPHA:247691
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ataxia, Abnormality of neutrophils, Hearing impairment, Ocular albinism, Hypochromic an... ORPHA:2720
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Sensorineural hearing impairment, Microcornea, Chorior... ORPHA:139471
Leigh Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Hepatocellular necrosis, Pigmentary reti... OMIM:256000
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... ORPHA:2715
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia OMIM:616204
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Abnormal erythrocyte enzyme level, Congenital ... ORPHA:1187
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Cataract, Inability to walk, Developmental glauc... ORPHA:99956
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Depressi... OMIM:234200
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Focal EEG discharges with secondary generalization, Optic atrophy, EE... ORPHA:263516
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy, Microtia, Hearing impairment ORPHA:1914
Aromatase Deficiency
Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Male infertility, Hypergonadotropic ... ORPHA:91
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Limb ataxia, Gait ataxia, Bradykin... OMIM:258450
Leukodystrophy, Hypomyelinating, 15
Ataxia, Sensorineural hearing impairment, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation OMIM:617951
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Rod-cone dystrophy, Ataxia, Cataract OMIM:614879
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Ataxia, Corneal opacity, Abnormal pupil ... ORPHA:1764
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Otodental Syndrome
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co... ORPHA:2791
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Loss of ambulation, Conductive hearing impairment, Thickened helices, ... ORPHA:581
Gm1 Gangliosidosis
Ataxia, Corneal opacity, Abnormal retinal vascular morphology, Splenomegaly, Unsteady gait, Optic... ORPHA:354
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Microcephaly, Amish Type
Hypoplasia of the fovea, Irritability, Optic atrophy, Hepatomegaly OMIM:607196
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Developmental catara... OMIM:615663
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Dysphagia, Irritability, Neutropenia, Loss of ambulation OMIM:618253
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Gait disturbance, Loss of ambulation, Lethargy, Anemia OMIM:615838
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Ataxia, Corneal opacity, Sensorineural hearing impairment, Ocular albinism, Athetosis, ... ORPHA:2719
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... ORPHA:99027
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Sensorineural hearing impairment, Optic ... ORPHA:96180
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Crouzon Syndrome
Optic atrophy, Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Iri... ORPHA:207
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Optic nerve ... OMIM:214110
Dpagt1-Cdg
Hepatomegaly, EEG with generalized slow activity, Ataxia, Akinesia, Aggressive behavior, Inabilit... ORPHA:86309
Trichinellosis
Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irritability, Abn... ORPHA:863
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Optic atrophy, E... ORPHA:1493
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sensorineural hearing impairment, Cataract ORPHA:3437
Zellweger Syndrome
Hepatomegaly, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Ext... ORPHA:912
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ... OMIM:612469
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Astigmatism, Dysphagia OMIM:619576
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Warburg Micro Syndrome 3
Cataract, Inability to walk, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior... OMIM:614222
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Cataract, Ataxia, Aggressive behavior, Gait ataxia, Hypsarrhythmia, Irritability, B... OMIM:618321
Joubert Syndrome 28
Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:617121
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
3-Methylglutaconic Aciduria, Type V
Ataxia, Microvesicular hepatic steatosis, Optic atrophy, Normochromic microcytic anemia, Nonprogr... OMIM:610198
Xeroderma Pigmentosum, Complementation Group B
Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at... OMIM:610651
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia OMIM:618233
Spinocerebellar Ataxia Type 13
Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Difficulty walking, Dys... ORPHA:98768
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, Motor axonal neuropathy ORPHA:289560
Jaberi-Elahi Syndrome
Broad-based gait, Cataract, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Choreoathet... OMIM:617988
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, EEG wi... ORPHA:163681
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Dysphagia, EEG abnormality, Progressive cerebellar ataxia, Prolonged neonatal jaun... OMIM:618868
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Microcytic anemia, Congenital sensorineural hearing im... ORPHA:293967
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment... ORPHA:79330
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Ataxia, Sensorineural hearing impairment, Vestibul... ORPHA:886
Usher Syndrome Type 2
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Iris hypopigmentation ORPHA:231178
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Cataract, External ear malformation, Optic disc coloboma, Micr... ORPHA:568
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Dystonia-Deafness Syndrome 1
Cataract, Sensorineural hearing impairment, Pseudobulbar paralysis, Dysphagia, Loss of ambulation OMIM:607371
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysmetria, Limb atax... OMIM:164400
Madras Motor Neuron Disease
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Tinnitus ORPHA:137867
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Gait disturbance,... ORPHA:2971
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Marinesco-Sjögren Syndrome
Cataract, Optic atrophy, Ataxia ORPHA:559
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent sinusitis, Nasal congestion OMIM:300991
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Optic disc coloboma, Irritability, Cholestatic liver disease, Punctate... ORPHA:92050
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Neutropenia in presence of anti-n... ORPHA:525731
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Gait di... OMIM:619259
Neuronal Intranuclear Inclusion Disease
EEG abnormality, Optic atrophy, Ataxia ORPHA:2289
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Ataxia, Splenomegaly, Inability to walk, Jaundice, Nucl... OMIM:608885
Agel Amyloidosis
Cataract, Ataxia, Facial palsy, Depression, Keratoconjunctivitis sicca, Abnormal spleen morpholog... ORPHA:85448
Coenzyme Q10 Deficiency, Primary, 2
Bulimia, Optic atrophy, Hearing impairment OMIM:614651
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax... ORPHA:95
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Low-set ears, Pete... OMIM:243605
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Optic atrophy, Chorioret... OMIM:619487
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Neuhauser Syndrome
Iridodonesis, Ataxia, Cupped ear, Hypoplasia of the iris, Large fleshy ears, Dysphagia, Megalocornea OMIM:249310
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Corneal opacity, Hepatomegaly, I... ORPHA:580
Trisomy 10P
Absent gallbladder, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked... ORPHA:171929
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Facial paralysis, ... OMIM:259700
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Gait disturbance, Sea-blue histiocytosis, Dysp... OMIM:230600
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Gait disturb... OMIM:250100
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Dy... OMIM:617282
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Inability to walk, Abnormal pupil morphology, Sensorineural ... ORPHA:90658
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Cataract, Posteriorly rotated e... OMIM:214100
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Inability to walk, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Chori... OMIM:617303
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Splenomegaly, Jaundice... OMIM:614866
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Optic atrophy, Dystonic gait, EEG abnormality, Astigmatism ORPHA:480898
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma OMIM:610125
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... OMIM:610217
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cataract, Ataxia, Optic atrophy, Gait ataxia, EEG abnormality ORPHA:543470
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, O... ORPHA:468678
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Biotinidase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Conjunctivit... OMIM:253260
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Ataxia, Optic atrophy, Anisocoria, Abnormal autonomic nervous system phy... OMIM:231550
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Optic atrophy, Depr... ORPHA:847
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... OMIM:213300
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice... OMIM:615512
Combined Oxidative Phosphorylation Deficiency 7
Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis OMIM:613559
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... ORPHA:254930
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Blue irides, EEG abnormality, Progressive gait ataxia, P... OMIM:105830
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Bilateral sensorin... ORPHA:436271
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Posteriorly rotated ears, Sensorineural hearing ... OMIM:222448
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Optic atrophy, ... ORPHA:2510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Stt3B-Cdg
Optic atrophy, Thrombocytopenia ORPHA:370924
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, He... ORPHA:90324
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Microvesicular hepatic steatosis, Optic atrophy, Hypochro... ORPHA:66634
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Ataxia, Sensorineural hearing impairment, Optic atrophy, Depression ORPHA:314404
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis OMIM:612444
Diamond-Blackfan Anemia
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Developmenta... ORPHA:124
Meningococcal Meningitis
Papilledema, Anorexia, Irritability, Lethargy, Hearing impairment ORPHA:33475
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Optic atrophy, Depression, Gait dist... OMIM:614298
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Retinal degeneration OMIM:277700
Transketolase Deficiency
Hepatomegaly, Cataract, Uveitis, Self-injurious behavior, Conjunctivitis, Attention deficit hyper... ORPHA:488618
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microtia, Iris coloboma ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr... OMIM:236670
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism, Increased size of nasopharyngeal adenoids OMIM:619769
Mend Syndrome
Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears ORPHA:401973
Oculodentodigital Dysplasia
Cataract, Ataxia, External ear malformation, Optic atrophy, Abnormality iris morphology, Microcor... ORPHA:2710
Revesz Syndrome
Aplastic anemia, Ataxia, Leukocoria, Exudative retinopathy, Bone marrow hypocellularity, Megaloco... OMIM:268130
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Splenomegaly, Inability to walk, Optic atrophy, Dysphagia OMIM:617913
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... OMIM:267750
Distal Deletion 13Q
Optic atrophy, Iris coloboma ORPHA:1590
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
EEG with abnormally slow frequencies, Inability to walk, Unsteady gait, Optic atrophy, EEG with f... OMIM:618493
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic megacolon, Atax... OMIM:209900
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Warburg Micro Syndrome 2
Cataract, Asymmetry of the ears, Optic atrophy, Developmental cataract, Microcornea, Macrotia OMIM:614225
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia ORPHA:411777
Coach Syndrome 1
Optic disc pallor, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal abdomen morp... OMIM:216360
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se... OMIM:120330
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Inability to walk, Optic atrophy, Sensory axonal neuropathy, Motor axonal neur... OMIM:609541
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearing impairme... ORPHA:3163
Miller Fisher Syndrome
EEG with generalized slow activity, Ataxia, Facial palsy, Anisocoria, Dysphagia, Mydriasis ORPHA:98919
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Halperin-Birk Syndrome
Inability to walk, Optic atrophy, Developmental cataract, Pseudobulbar paralysis, Hearing impairment OMIM:618651
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Tr... OMIM:220110
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Uni... OMIM:619539
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Ataxia OMIM:618248
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Pancytopenia, Corneal opacity, Abnormality of the spleen, Thromboc... ORPHA:2072
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Sensorineural he... ORPHA:760
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Hepatomegaly, Anorexia, Ectopi... ORPHA:394
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... ORPHA:1772
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Chronic active hepatitis, Asplenia, Iridocyclitis, Keratoconjunctivitis, Perifoveal rin... OMIM:240300
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... OMIM:614077
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment OMIM:617516
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Optic atroph... OMIM:615688
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Ataxia, Cataract, Jaundice, Hepatosplenomegaly, Stomatocytosis, Mac... ORPHA:168577
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Nodular regenerative hyperplasia of liv... ORPHA:404454
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Sensorineural hea... ORPHA:101076
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis OMIM:614935
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Optic atrophy, Abnormal optic disc morphology, Low-set ears, Severe sen... ORPHA:363417
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cataract, Ataxia, Hepatomegaly, Pancreatic fibrosis, Hearing impai... ORPHA:699
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Vici Syndrome
Cataract, Left ventricular hypertrophy, Macular atrophy, Sensorineural hearing impairment, Ocular... OMIM:242840
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Epiphyseal stippling, Hypoplasia of the nasal bone, Knee flexion contracture OMIM:118650
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Corneal scarring, Conjunctivitis, Dysphagia, Anemia OMIM:226600
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepa... ORPHA:191
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Hepatomegaly, Microcytic anemia, Optic atrophy, Difficulty walking, Neutropenia OMIM:251900
Pettigrew Syndrome
Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosi... OMIM:304340
Sponastrime Dysplasia
Joint laxity, Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Hypospa... ORPHA:93357
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Anemia, Developmental cataract OMIM:127000
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Depression, Progressive gait ataxia, Falls, Dysphagia, Loss of ambulation ORPHA:329308
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, He... OMIM:618249
Lead Poisoning
Anorexia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Depression, Attention defi... ORPHA:330015
Leber Optic Atrophy
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... OMIM:535000
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Difficult... ORPHA:95433
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural heari... OMIM:614863
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati... OMIM:308300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... OMIM:175780
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Macular hypoplasia, Ch... OMIM:615219
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, External ear malformation, Abnormal pupil morpholog... ORPHA:233
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Ataxia, Posterior cortical cataract, Anterior cortical c... ORPHA:67036
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Sensorineura... ORPHA:324
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Pancytopenia, Cataract, Ataxia, Corneal opacity, Mixed hearing impairment, Sen... ORPHA:309282
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga... ORPHA:96121
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Broad nasal tip, Bifid nasal tip... OMIM:603671
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... ORPHA:98791
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Osteopetrosis, Autosomal Recessive 9
Papilledema, Anemia OMIM:620366
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia, Cholecys... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Cholecystitis, Bilat... ORPHA:309263
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potentials, Hepat... ORPHA:2388
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Ataxia, Corneal opacity, Chronic myelogenous leuke... ORPHA:636
Xq21 Microdeletion Syndrome
Stapes ankylosis, Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Dilatate... ORPHA:1435
Arima Syndrome
Hepatomegaly, Ataxia, Retinal dystrophy, Optic atrophy, Hepatic fibrosis, Chorioretinal coloboma,... OMIM:243910
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Wolfram Syndrome
Ataxia, Abnormal mesentery morphology, Sensorineural hearing impairment, Optic atrophy, Abnormal ... ORPHA:3463
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Blau Syndrome
Cataract, Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neuritis, Splenom... ORPHA:90340
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Ataxia, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism, Gait disturb... ORPHA:464311
Hermansky-Pudlak Syndrome
Cataract, Anorexia, Ocular albinism, Astigmatism, Abnormal optic nerve morphology, Neutropenia, I... ORPHA:79430
Jacobsen Syndrome
Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Low-set ears, Annular pan... OMIM:147791
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Chops Syndrome
Cataract, Splenomegaly, Optic atrophy, Thickened helices, Hearing impairment OMIM:616368
Friedreich Ataxia
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... OMIM:229300
Meckel Syndrome
Accessory spleen, Low-set, posteriorly rotated ears, Cataract, Abnormal chorioretinal morphology,... ORPHA:564
Microphthalmia, Syndromic 2
Anteverted ears, Flexion contracture, Contracture of the proximal interphalangeal joint of the 3r... OMIM:300166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina,... OMIM:253280
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Jaundice, Optic atrophy, Pigmen... ORPHA:79282
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... OMIM:269200
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Posteriorly rotated ears, Tip-toe gait, Astigmatism, Low-set ears, M... OMIM:619268
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Ataxia, Bradykinesia, Abnormal autonomic nervous system ph... OMIM:146500
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Orthostatic hypotension due to autonomic dysfunction, Impulsivity, Co... ORPHA:642
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Anemia, Developmental cataract ORPHA:93325
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Leukope... ORPHA:1328
De Sanctis-Cacchione Syndrome
Ataxia, Keratitis, Sensorineural hearing impairment, Axonal degeneration, Optic atrophy, Scissor ... OMIM:278800
Leptospirosis
Papilledema, Hepatomegaly, Anorexia, Jaundice, Retinal hemorrhage, Uveitis, Hepatitis, Lymphadeno... ORPHA:509
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Joubert Syndrome 21
Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Dysphagia, ... OMIM:615636
Alagille Syndrome
Keratoconus, Hepatomegaly, Corneal dystrophy, Abnormal pupil morphology, Cholestasis, Protruding ... ORPHA:52
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Dysp... OMIM:308940
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Gapo Syndrome
Keratoconus, Hepatomegaly, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Protruding... OMIM:230740
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Dysphagia, Aggressive behavior ORPHA:289483
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Congenital Fibrosis Of Extraocular Muscles
Cataract, Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Anisocoria, Abnorm... ORPHA:45358
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Sensorineural hearing impairment, Optic atrophy, Ataxia, Depression OMIM:604121
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Abnorm... ORPHA:353281
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal p... ORPHA:534
Biotinidase Deficiency
Ataxia, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Conjunctivitis, Lethar... ORPHA:79241
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Normochromic anemia, Cholelithiasis, Thrombocytopenia OMIM:618775
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal foveal ... ORPHA:217085
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Ataxia, Thrombocytopenia, Optic atrophy, Leukopen... OMIM:305000
Trisomy 9P
Abnormal pupil morphology, Macrotia, Protruding ear ORPHA:236
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Optic... ORPHA:910
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal foveal ... ORPHA:217093
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Hearing impairment, Coloboma, Abnormal optic disc morpholog... ORPHA:508498
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Ataxia, Anisocoria, Dysphagia, Hearing impairment OMIM:615510
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Hyperactivity, Autoimmune hemolytic anemia, Retinal pigment epitheli... OMIM:251260
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Mixed hearing impairment, Optic atrophy OMIM:201180
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocor... ORPHA:790
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Cardiomegaly, Optic atrophy, Lethargy, Megalocornea, Congenital ap... ORPHA:137675
Bardet-Biedl Syndrome 20
Papilledema, Astigmatism, Retinal vascular tortuosity, Rod-cone dystrophy, Pancreatitis OMIM:619471
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... OMIM:260920
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis, Conductiv... OMIM:244400
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Broad-based gait, Aplasia/Hypoplasia of the earlobes, Optic atrophy, EEG abnormality, Absent earlobe OMIM:609037
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Cupped ear, T lymphocytopenia, Ectopia pupillae, Abnormal B cell morpholog... OMIM:618223
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis, Conduc... ORPHA:244
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Crani... ORPHA:2785
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae OMIM:615877
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Hepatic steatosis, Cataract, Abnormality of the spleen, Sensor... ORPHA:1606
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia OMIM:612301
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Legius Syndrome
Hyperactivity, Cataract, Acute monocytic leukemia, Neurofibroma, Vestibular schwannoma, Attention... ORPHA:137605
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
African Trypanosomiasis
Papilledema, Hepatomegaly, Akinesia, Aggressive behavior, Keratitis, Splenomegaly, Jaundice, Hepa... ORPHA:3385
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Hypogonadism, Abnorma... ORPHA:85450
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia OMIM:180200
Blau Syndrome
Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema, Abn... OMIM:186580
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Pigmentary retinopathy, Polydipsia, Corneal crystals ORPHA:411629
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutrope... OMIM:260400
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Dysphagia OMIM:300858
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... OMIM:259770
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Wolfram Syndrome 2
Sensorineural hearing impairment, Optic atrophy, Optic neuropathy, Depression OMIM:604928
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... OMIM:105650
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Hear... OMIM:227650
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Hearing impairment OMIM:266270
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Optic neuropathy, Optic atrophy, Optic nerve compression, Hearing impairment OMIM:619727
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Micrognathia, Oligo... ORPHA:125
Collagenoma, Familial Cutaneous
Iris atrophy, Sensorineural hearing impairment OMIM:115250
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea, Hearing impairment OMIM:619869
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensor... ORPHA:353277
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Intellectual Developmental Disorder, Autosomal Recessive 72
Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Prominent nose, Broad nasal tip, L... OMIM:618665
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Retinal dystrophy, Subretinal deposits, Abnormal optic disc mo... ORPHA:397715
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Cardiomegaly ORPHA:91387
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Uplifted earlobe, Asplenia, Abnormal pupil morphology, Microcornea, Abnormal repetitive mannerism... ORPHA:261552
Neonatal Marfan Syndrome
Iridodonesis, Ectopia lentis, Low-set ears, Crumpled ear, Megalocornea ORPHA:284979
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Micrognathia, Cryptorchidism, Sensor... OMIM:163950
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Depressed nasal ridge, Poorly o... ORPHA:3003
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cystinosis, Nephropathic
Male infertility, Failure to thrive in infancy, Retinal pigment epithelial mottling, Rickets, Wei... OMIM:219800
Neurooculorenal Syndrome
Iris atrophy, Mixed hearing impairment, Sensorineural hearing impairment OMIM:620305
Alström Syndrome
Hepatic fibrosis, Severe sensorineural hearing impairment, Hepatic steatosis, Hepatomegaly, Ataxi... ORPHA:64
Cystic Fibrosis
Male infertility, Nasal polyposis, Failure to thrive OMIM:219700
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Aplasia/Hypoplasia of the earlobes, Cystocele, Protruding... ORPHA:286
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512

Histopathology

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

There is no histopathology data for Mettl5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mettl5.

No publications found that use IMPC mice or data for Mettl5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mettl5em1(IMPC)Hmgu Indel Mice
Mettl5tm50967(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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