Gene Summary

Name:
methyltransferase like 5
Synonyms:
2810410A08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased erythrocyte cell number Mettl5em1(IMPC)Hmgu HOM   Early adult 4.40×10-08
abnormal vitreous body morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.30×10-12
abnormal behavior Mettl5em1(IMPC)Hmgu HOM   Early adult 1.23×10-05
increased grip strength Mettl5em1(IMPC)Hmgu HOM   Early adult 4.13×10-05
persistence of hyaloid vascular system Mettl5em1(IMPC)Hmgu HOM Early adult 6.38×10-08
abnormal lens morphology Mettl5em1(IMPC)Hmgu HOM Early adult 2.56×10-06
abnormal iris morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.23×10-05
cataract Mettl5em1(IMPC)Hmgu HOM Early adult 2.01×10-05
decreased hemoglobin content Mettl5em1(IMPC)Hmgu HOM   Early adult 3.05×10-11
decreased anxiety-related response Mettl5em1(IMPC)Hmgu HOM   Early adult 1.04×10-06
hyperactivity Mettl5em1(IMPC)Hmgu HOM   Early adult 1.55×10-05
increased spleen weight Mettl5em1(IMPC)Hmgu HOM   Early adult 3.55×10-05
increased hematocrit Mettl5em1(IMPC)Hmgu HET   Early adult 2.36×10-05
decreased locomotor activity Mettl5em1(IMPC)Hmgu HOM   Early adult 1.02×10-08
iris synechia Mettl5em1(IMPC)Hmgu HOM Early adult 2.96×10-05
abnormal gait Mettl5em1(IMPC)Hmgu HET Early adult 5.50×10-05
abnormal auditory brainstem response Mettl5em1(IMPC)Hmgu HOM   Early adult 6.67×10-10
abnormal retina morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.89×10-08
decreased hematocrit Mettl5em1(IMPC)Hmgu HOM   Early adult 2.07×10-07
abnormal cornea morphology Mettl5em1(IMPC)Hmgu HOM   Early adult 8.26×10-06
decreased vertical activity Mettl5em1(IMPC)Hmgu HOM   Early adult 4.91×10-09
abnormal optic disk morphology Mettl5em1(IMPC)Hmgu HOM Early adult 7.29×10-08
abnormal cranium morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.23×10-12
abnormal head morphology Mettl5em1(IMPC)Hmgu HOM Early adult 8.39×10-08
increased grip strength Mettl5em1(IMPC)Hmgu HET Early adult 2.12×10-05
decreased thigmotaxis Mettl5em1(IMPC)Hmgu HOM   Early adult 4.54×10-08
decreased blood urea nitrogen level Mettl5em1(IMPC)Hmgu HET Early adult 3.01×10-06
decreased body length Mettl5em1(IMPC)Hmgu HOM   Early adult 4.75×10-07
abnormal retina vasculature morphology Mettl5em1(IMPC)Hmgu HOM Early adult 1.41×10-06
abnormal auditory brainstem response Mettl5em1(IMPC)Hmgu HET   Early adult 6.67×10-10

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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
Low-set, posteriorly rotated ears, Macrotia, Aggressive behavior, Attention deficit hyperactivity... 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
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Hyperlysinemia, Type I
Anemia, Hyperactivity, Ectopia lentis OMIM:238700
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Ataxia, Gait disturbance, Spastic ataxia, Optic atrophy ORPHA:2572
Ceroid Lipofuscinosis, Neuronal, 9
Vacuolated lymphocytes, Ataxia, Rod-cone dystrophy, Loss of ambulation, Optic atrophy OMIM:609055
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Anxiety, Cataract, Rod-cone dystrophy, Macular degeneration, Loss of ambu... OMIM:204200
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Hearing impairment OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Hearing impairment OMIM:300719
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, EEG abnormality, Ataxia, Optic atrophy, Hearing impairment ORPHA:2732
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Morm Syndrome
Cataract, Hyperactivity, Aggressive behavior, Retinal atrophy, Retinal dystrophy ORPHA:75858
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis OMIM:311050
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression, Optic atrophy, Hearing impairment OMIM:614296
Spastic Ataxia 4, Autosomal Recessive
Emotional lability, Spastic ataxia, Optic atrophy OMIM:613672
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Difficulty walking, Irritability OMIM:617393
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Difficulty walking, Optic atrophy, Hearing impai... OMIM:617087
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... OMIM:611102
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Ataxia, Optic atrophy OMIM:136600
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Optic atrophy, Dysdiadochokinesis OMIM:108650
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Adult onset sensorineural hearing impairment, Cataract, Ataxia, Depres... ORPHA:329314
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Ataxia ORPHA:99852
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Optic atrophy OMIM:615658
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Inappropriate crying, EEG with generalized epileptiform discharges, Inappropriate laughter, Gait ... OMIM:619323
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Isochromosomy Yq
Varicocele, Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia, Gonada... ORPHA:98798
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Ataxia, Abnorma... ORPHA:320401
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Absent earlobe, Retinal coloboma, Morning glory a... OMIM:612109
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Intermediate Uveitis
Band keratopathy, Optic neuritis, Macular scar, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Ret... OMIM:310600
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Ataxia, Gait disturbance ORPHA:2815
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, EEG abnormality, Ataxia, Optic atrophy OMIM:614706
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Inability to walk, Hyperactivity OMIM:616657
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
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
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Sensorineural hearing impairment, C... ORPHA:1473
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait OMIM:617133
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Abnormality of male internal genitalia, Bilateral cryptorchidism OMIM:261550
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract, Hepatomegaly, Hypsarrhythmia OMIM:607906
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Deafness-Infertility Syndrome
Azoospermia, Sensorineural hearing impairment, Male infertility ORPHA:94064
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Ribose 5-Phosphate Isomerase Deficiency
Ataxia, Optic atrophy OMIM:608611
Ceroid Lipofuscinosis, Neuronal, 1
EEG abnormality, Retinal degeneration, Ataxia, Irritability, Macular degeneration, Depression, Op... OMIM:256730
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Gait d... OMIM:125250
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Sensorineural hearing impairment, Cataract, Ataxia, Geographic atrophy, Abn... OMIM:619260
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Sensorineural hearing impairment, Cataract, Corn... ORPHA:90654
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Optic Atrophy 5
Optic atrophy OMIM:610708
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Ataxia, Gait ataxia, Limb ataxia, Optic atrophy OMIM:614322
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Gai... OMIM:601455
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Violent behavior, Inertia, Emotional lability, Irritability, Gait disturbance, Depre... ORPHA:216873
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Optic atrophy, Macular atrophy OMIM:250450
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Optic atrophy, Gait disturbance OMIM:616859
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Phenylketonuria
Anxiety, Cataract, Hyperactivity, Blue irides, Aggressive behavior, Irritability, Self-mutilation... OMIM:261600
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Sensorineural hearing impairment, Cataract, Hepatomegaly, Pigm... OMIM:204000
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Hypsarrhythmia OMIM:617830
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Optic atrophy OMIM:300983
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, EEG abnormality, Ataxia, Pigmentary retinopathy, Optic atrophy OMIM:610951
Leukodystrophy, Hypomyelinating, 13
Ataxia, Optic atrophy OMIM:616881
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Cataract, Corneal opaci... OMIM:152950
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Peroxisome Biogenesis Disorder 8B
Dysmetria, Sensorineural hearing impairment, Cataract, Ataxia, Retinal dystrophy, Optic atrophy OMIM:614877
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait, Aggressive behavior OMIM:619470
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Sensorineural heari... ORPHA:290
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Anxiety, Cataract, Corneal opacity, Ataxia, Optic disc pallor, ... ORPHA:309288
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Sensorineural hearing impairment, Cataract, Limb dysmetria, Optic atrophy OMIM:270800
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Depression, Optic atrophy OMIM:248000
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Anxiety, Ataxia, Peripheral axonal neuropathy, Depression, Difficulty walking, Optic atrophy OMIM:619425
Usher Syndrome Type 3
Anxiety, Cataract, Astigmatism, Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, ... ORPHA:231183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Liberfarb Syndrome
Retinal degeneration, Sensorineural hearing impairment, Retinal pigment epithelial mottling, Opti... OMIM:618889
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Gait ataxia, Emotional lability, Optic disc pallor, Dysdiado... ORPHA:98890
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Srd5A3-Cdg
Microcytic anemia, Cataract, Ataxia, Optic disc hypoplasia, Rod-cone dystrophy, Coloboma, Optic a... ORPHA:324737
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Ataxia, Aggressive behavior, A... ORPHA:97229
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, EEG abnormality, Corneal opacity, Optic nerve hypoplasia, Peripheral vitr... ORPHA:137902
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Keratoconus, Hearin... ORPHA:65
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Ataxia, Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Opt... OMIM:619389
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Hypoplasia of the antihelix, Cataract, Abnormal antihelix morphology, Hea... ORPHA:2489
Autosomal Recessive Spastic Paraplegia Type 45
Spastic gait, Optic atrophy ORPHA:320396
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Optic atrophy OMIM:611726
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Optic disc pallor, Ataxia, Retinal thinning OMIM:618970
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Steppage gait, Decreased number of peripheral myelinated nerve fibers, Decr... OMIM:609260
Camos Syndrome
Ataxia, Optic atrophy ORPHA:83472
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Male infertility, Testicular atrophy ORPHA:276183
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... OMIM:311070
Usher Syndrome Type 1
Anxiety, Cataract, Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Abnormal coch... ORPHA:231169
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Gm1-Gangliosidosis, Type Ii
Ataxia, Optic atrophy, Sea-blue histiocytosis, Gait disturbance OMIM:230600
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Optic atrophy, Low-set ears, Hypsarrhythmia OMIM:300884
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Steppage gait, Peripheral axonal neuropathy, Difficulty walking, Optic atrophy OMIM:615035
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, EEG abnormality, Hyperactivity, Ataxia, Inappropriate laughter, Iris hypopigmenta... ORPHA:411515
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Mucolipidosis Iv
Retinal degeneration, Corneal opacity, Abnormal abdomen morphology, Opacification of the corneal ... OMIM:252650
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy ORPHA:468661
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Low frustration tolerance, Retinal degeneration, Anxiety, Ast... ORPHA:168491
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Inability to walk, Gait disturbance, Optic atrophy, Hypsarrhythmia OMIM:618012
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Ataxia, Congenital hepatic fibrosis, Retinal dystr... ORPHA:3156
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Neutropenia, Abnormal distribution... OMIM:180080
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Hepatomegaly, Pigmentary retinopathy, Irritability, Rod-cone dystrophy, Bilateral s... OMIM:264470
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Wolfram-Like Syndrome
Anxiety, Progressive cerebellar ataxia, Peripheral axonal neuropathy, Congenital sensorineural he... ORPHA:411590
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Spastic ataxia, Optic atrophy ORPHA:496756
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Ataxia, Optic atrophy ORPHA:2246
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Dysmetria, Sensorineural hearing impairment, Ataxia, Decreased nerve conduc... OMIM:612674
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Nescav Syndrome
Peripheral axonal neuropathy, Inability to walk, Optic atrophy OMIM:614255
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia, Anemia, Emotional lability, Pigmentary retinopathy, Optic atrophy,... ORPHA:255241
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Ataxia, Abnormal leukocyte morphology, Retrobulbar optic neuritis, Gait disturbance, Optic atrophy ORPHA:3151
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Fundus... ORPHA:67042
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Anterior synechiae of the anterior chamber, Microcornea, Sensorineural hearing impairment, Iris h... ORPHA:3214
Usher Syndrome, Type Iiib
Truncal ataxia, Optic disc pallor, Ataxia, Hearing impairment OMIM:614504
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Steppage gait, Aggressive behavior, Gait ataxia, Emotional lability, EEG ... ORPHA:98818
Merrf
Sensorineural hearing impairment, Ataxia, Optic atrophy ORPHA:551
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Retinal vasculitis, Anterior chamber flare, Chorioretinal scar, Posterior uvei... ORPHA:91500
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal retinal nerve fibe... ORPHA:1215
Cofs Syndrome
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Splenomegaly, Optic atrophy OMIM:602271
Maternally-Inherited Diabetes And Deafness
Retinopathy, Sensorineural hearing impairment, Cataract, Ataxia, Macular dystrophy, Abnormal chor... ORPHA:225
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, EEG abnormality, Abnormal peripheral action potential amplitude, Inabi... ORPHA:457205
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ataxia, Retinal vascular tortuosity, Optic atrophy ORPHA:104
Lamb-Shaffer Syndrome
Anxiety, Optic atrophy, Low-set ears, Posteriorly rotated ears OMIM:616803
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Conductive hearing impairment, Sensorineural heari... ORPHA:791
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Optic atrophy OMIM:611721
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Optic atrophy OMIM:613162
Congenital Muscular Dystrophy, Fukuyama Type
EEG abnormality, Cataract, Retinal dysplasia, Gait disturbance, Optic atrophy ORPHA:272
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Cataract, Ataxia, Decreased sensory nerve conduction vel... OMIM:609033
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Infantile Refsum Disease
Sensorineural hearing impairment, Cataract, Ataxia, Hepatomegaly, Rod-cone dystrophy, Facial pals... ORPHA:772
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Rod-cone dystrophy, Cataract, Ataxia OMIM:136300
Salt And Pepper Developmental Regression Syndrome
Irritability, Multifocal epileptiform discharges, Optic atrophy, Hearing impairment OMIM:609056
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Dysmetria, Hepatosplenomegaly, Low-set ears, Loss of ability to wa... ORPHA:93399
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Ataxia, Aggressive behavior OMIM:239500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Sensorineural hearing impairment, Lethargy, Retinal dystrophy, Thrombocytop... ORPHA:49827
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Shuffling gait, Prelingual sensorineural hearing ... ORPHA:52368
Cockayne Syndrome Type 1
Uveitis, Optic atrophy, Hearing impairment, Cataract, Ataxia, Hepatomegaly, Anemia, Pigmentary re... ORPHA:90321
Severe Canavan Disease
Irritability, Inability to walk, Optic atrophy, Lethargy ORPHA:314911
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Sensorineural hearing impairment, Cataract, Optic nerve hypoplasia, Macro... ORPHA:163937
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Optic disc pallor, Reticulocytosis, Facia... OMIM:611490
Congenital Hydrocephalus
Optic atrophy, Sensorineural hearing impairment, Posteriorly rotated ears, Macular hypoplasia, Ir... ORPHA:2185
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Dysmetria, Optic atrophy OMIM:616680
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Lethargy, Irritability, Impulsivity OMIM:605899
Narp Syndrome
Retinal arteriolar tortuosity, Ataxia, Retinal pigment epithelial mottling, Rod-cone dystrophy, O... ORPHA:644
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Low-set ears, H... ORPHA:96125
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Sensory axonal neuropathy, Abnormal retinal morphology, Shuffling gait, Bradykine... ORPHA:254886
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ataxia, Unsteady gait OMIM:614947
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Optic atrophy OMIM:615085
Cach Syndrome
Optic neuritis, Dysmetria, Hepatosplenomegaly, Cataract, Apathy, Truncal ataxia, Irritability, Pa... ORPHA:135
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Ataxia, Hearing impairment, Optic atrophy ORPHA:1186
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Ataxia, Optic atrophy ORPHA:1171
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Retinal degeneration, Sensorineural hearing impairment, Ataxia, Thiamine-re... OMIM:249270
3-Methylglutaconic Aciduria Type 4
Hearing impairment, Cataract, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Aplasia/Hypoplasia of the macula, Macular dystrophy, Ataxia, Opti... ORPHA:33445
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Inability to walk, Retinal vascular tortuosity, Optic atrophy OMIM:618768
Classic Galactosemia
Ascites, Anxiety, Cataract, Ataxia, Jaundice, Lethargy, Hepatomegaly, Gait disturbance, Abnormal ... ORPHA:79239
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Ataxia, Optic atrophy, Hearing impairment, Hypsarrhythmia OMIM:619701
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Decreased nerve conduction velocity, Emot... ORPHA:206443
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia, Posteriorly rotated ears,... OMIM:609425
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Sensorineural hearing impairment, Cataract, Astigmatism, Retinal detachment ORPHA:250984
Neonatal Adrenoleukodystrophy
EEG abnormality, Abnormality of the liver, Abnormality of retinal pigmentation, Cataract, Sensori... ORPHA:44
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Lethargy, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Optic ... ORPHA:79312
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy, Bradykinesia OMIM:619052
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Infantile Spasms-Broad Thumbs Syndrome
EEG abnormality, Cataract, Optic disc pallor ORPHA:3173
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Suicidal ideation, Cholelithiasis, Optic neuropat... ORPHA:909
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Low-set ears, Cataract, Fluctuat... OMIM:610377
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Cataract, Splenomegaly, Ataxia ORPHA:29
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Temporal optic disc pallor, Morning glory anomaly, Sensorineural hearing impai... ORPHA:98673
Congenital Sialidosis Type 2
Cherry red spot of the macula, Dysmetria, Developmental cataract, Hepatosplenomegaly, Low-set ear... ORPHA:93400
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Cataract, Progressive cerebellar ataxia, Truncal ataxia, Tortuosity of conjunctival ve... ORPHA:284289
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Aggressive behavior, Personality... ORPHA:2382
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Hearing impairment OMIM:309555
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic atrophy, Hypsarrhythmia OMIM:617086
Triple A Syndrome
Optic atrophy, Sensorineural hearing impairment, Ataxia, Iris coloboma, Motor axonal neuropathy ORPHA:869
Cinca Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Uveitis, Papilledema, Progressive sensorineural h... OMIM:607115
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Pancreatitis, Ataxia, Hepatomegaly, Lethargy, Anemia, Macrocytic anemia, Thrombocytop... ORPHA:27
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Abnormal pupil morphology, Periph... ORPHA:101082
Sialidosis Type 1
Cherry red spot of the macula, Retinopathy, EEG abnormality, Sensorineural hearing impairment, Ca... ORPHA:812
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Zika Virus Disease
Absent foveal reflex, Transient hearing impairment, Lens subluxation, Conjunctivitis, Optic disc ... ORPHA:448237
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Irritability, Hepatitis, A... ORPHA:848
Jaberi-Elahi Syndrome
Dysmetria, Low-set ears, Cataract, Inability to walk, Gait ataxia, Protruding ear, Optic atrophy OMIM:617988
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Ataxia, Optic atrophy OMIM:617207
Lissencephaly 5
Cataract, Optic atrophy, Hearing impairment OMIM:615191
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Sarcosinemia
Emotional lability, Ataxia, Infantile sensorineural hearing impairment, Optic atrophy ORPHA:3129
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Rod-cone dystrophy, Cataract, Ataxia OMIM:614879
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Inability to walk, Optic disc pallor OMIM:619328
4H Leukodystrophy
Dysmetria, Cataract, Ataxia, Progressive gait ataxia, Dysdiadochokinesis, Optic atrophy ORPHA:289494
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Progressive hearing impairment, Retinal arteriolar constriction, Bilateral sensorineural hearing ... OMIM:124950
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Rieger anomaly, Senso... OMIM:109120
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Ataxia, Optic atrophy OMIM:165200
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Sensorineural heari... ORPHA:585
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor, Degenerative liver disease OMIM:268040
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Lethargy, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Optic atrophy ORPHA:289916
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Coloboma, Megalocornea, Optic atrophy, Abno... ORPHA:370959
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Inability to walk, Splenomegaly, Ataxia, Jaundice, Hepatomegaly, Hemolytic anemia OMIM:608885
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Progressive cerebellar ataxia, Gait ataxia, Hepatic fibrosis, Optic atrophy ORPHA:466794
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Optic atrophy OMIM:618324
Behr Syndrome
Optic atrophy, Dysmetria, Ataxia, Gait disturbance OMIM:210000
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology ORPHA:329284
Norrie Disease
Abnormal vitreous humor morphology, EEG abnormality, Retinal detachment, Protruding ear, Scleroco... ORPHA:649
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Ataxia, Gait disturbance OMIM:617282
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Macular degeneration, Optic atr... OMIM:164500
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Neuraminidase Deficiency
Cherry red spot of the macula, Dysmetria, Vacuolated lymphocytes, Sensorineural hearing impairmen... OMIM:256550
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Sensorineural hearing impairment, Spastic ataxia, Optic atrophy, Broad-based gait OMIM:270500
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Uveitis, Retinal detachment, Posterior ret... OMIM:193235
Folinic Acid-Responsive Seizures
EEG with generalized slow activity, Sensorineural hearing impairment, Ataxia, Irritability, Multi... ORPHA:79097
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Sensorineural hearing impairment, Abnormal autonomic ... OMIM:598500
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor, Falls OMIM:613341
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Refsum Disease, Classic
Retinal degeneration, Sensorineural hearing impairment, Cataract, Ataxia, Rod-cone dystrophy, Car... OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Coloboma, Left ventricular hypertrophy OMIM:613153
Spastic Paraplegia 26, Autosomal Recessive
Dysmetria, Spastic gait, Cataract, Ataxia, Emotional lability, Tip-toe gait, Difficulty walking OMIM:609195
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Sensorineural hearing impairment, Cataract, Retinal detachment OMIM:604841
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy OMIM:619690
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Pontocerebellar Hypoplasia Type 10
Irritability, Optic atrophy ORPHA:411493
Null Syndrome
Peripheral demyelination, Inability to walk, Ataxia, Decreased nerve conduction velocity, Difficu... ORPHA:280234
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Cednik Syndrome
Sensorineural hearing impairment, Ataxia, Macrotia, Optic atrophy, Abnormality of peripheral nerv... ORPHA:66631
Arthrogryposis, Distal, Type 2A
Recurrent fractures, Small for gestational age, Elbow flexion contracture, Cryptorchidism, Knee f... OMIM:193700
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Dysmetria, Inertia, Abnormal nerve conduction vel... ORPHA:98755
Laurence-Moon Syndrome
Sensorineural hearing impairment, Cataract, Ataxia, Low-set, posteriorly rotated ears, Abnormal a... ORPHA:2377
Warburg Micro Syndrome 1
Developmental cataract, Low-set ears, Microcornea, Macrotia, Optic atrophy OMIM:600118
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Inability to walk, Optic disc pallor, Multifocal epileptiform discharges, Gait d... OMIM:617166
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Leukoencephalopathy With Vanishing White Matter
Lethargy, Emotional lability, Unsteady gait, Gait disturbance, Optic atrophy OMIM:603896
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Muscle-Eye-Brain Disease
Cataract, EEG abnormality, Optic atrophy, Gait disturbance ORPHA:588
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, De... ORPHA:248111
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Hemimegalencephaly
EEG with focal sharp slow waves, Hemihypsarrhythmia, Interictal EEG abnormality, EEG with burst s... ORPHA:99802
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Ataxia, Bilateral sensorineural hearing impairment, Self-mutilation, Optic atrophy OMIM:619422
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Cinca Syndrome
Pseudopapilledema, Uveitis, Leukocytosis, EEG abnormality, Sensorineural hearing impairment, Sple... ORPHA:1451
Cri-Du-Chat Syndrome
Low-set ears, Anxiety, Cataract, Hyperactivity, Conspicuously happy disposition, Aggressive behav... OMIM:123450
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Lethargy, Anemia, Optic disc pallor, Gait disturbance OMIM:615838
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Emotional lability, Optic atrophy, Progressive gait ataxia ORPHA:254343
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation, Hearing impai... ORPHA:93296
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, My... OMIM:259720
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Optic disc pallor, Left ventricular hypertrophy, Drusen OMIM:618632
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Uplifted earlobe, Cataract, Ataxia, Hepatomegaly, Hearing impairment ORPHA:251009
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... OMIM:312600
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Ataxia, Optic atrophy ORPHA:85297
Mitochondrial Complex I Deficiency, Nuclear Type 5
Irritability, Optic atrophy, Ataxia, Lethargy OMIM:618226
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Unsteady gait, Irritability, Loss of ability to walk in early childhood, Left ventricular... ORPHA:401866
Brown-Vialetto-Van Laere Syndrome 2
Sensorineural hearing impairment, Ataxia, Aggressive behavior, Facial palsy, Optic atrophy OMIM:614707
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Lethargy OMIM:618228
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Sensorineural hearing impairment, Cataract, Retinal detachment ORPHA:90653
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hepatomegaly, Neutropenia, Difficulty walking, Optic atrophy OMIM:251900
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Optic atrophy, Hearing impairment ORPHA:99014
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, EEG with burst suppression OMIM:619303
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Loss of ability to walk, Anxiety, Interictal EEG abnormality, Emotional lab... ORPHA:79264
Cockayne Syndrome A
Sensorineural hearing impairment, Cataract, Splenomegaly, Ataxia, Peripheral dysmyelination, Decr... OMIM:216400
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hyperactivity, EEG with generalized epileptiform discharg... ORPHA:88616
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Alg8-Cdg
Retinopathy, Low-set ears, Cataract, Ataxia, Anemia, Ascites, Thrombocytopenia, Optic atrophy ORPHA:79325
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Lens subluxation, Congenital sensorineural hearing impairment ORPHA:3456
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Cataract, Hepatomegaly, Pancreatitis, Broad-based gait OMIM:618805
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Irritability, Optic disc pallor, Ataxia OMIM:615281
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dysmetria, Sensorineural hearing impairment, Bradykinesia, Ataxia, Gait ataxia, Progressive senso... OMIM:601338
Optic Atrophy 1
Ataxia, Optic atrophy OMIM:165500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Optic atrophy, Lethargy ORPHA:26792
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Cataract, Corneal opacity, Optic nerve hypoplasia, Gait ataxia, Peripheral axonal n... ORPHA:496790
Hyperphosphatasia With Mental Retardation Syndrome 6