Gene Summary

Name:
zinc finger and BTB domain containing 5
Synonyms:
9430083K24Rik

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
anophthalmia Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal retinal outer nuclear layer morphology Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 2.80×10-10
abnormal behavior Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 3.88×10-08
decreased anxiety-related response Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 5.74×10-05
hypoactivity Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 4.89×10-08
increased startle reflex Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 1.01×10-05
abnormal optic disk morphology Zbtb5tm2b(EUCOMM)Hmgu HOM   Early adult 1.26×10-05
decreased thigmotaxis Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 3.81×10-08
decreased total retina thickness Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 2.58×10-27
narrow eye opening Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 8.38×10-05
abnormal retinal inner nuclear layer morphology Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 1.02×10-13
hyperactivity Zbtb5tm2b(EUCOMM)Hmgu HOM   Early adult 2.58×10-06

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 0.0% (0 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Eye N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

22 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of right fundus

13 Images

Human diseases caused by Zbtb5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Zbtb5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy OMIM:311050
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Epicanthus, Aggressive behavior, Hyperactivity OMIM:309548
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Emotional lability OMIM:613672
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Anxiety, Depression OMIM:614296
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy OMIM:108650
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Optic atrophy OMIM:615658
Ceroid Lipofuscinosis, Neuronal, 9
Progressive inability to walk, Optic atrophy, Rod-cone dystrophy, Ataxia OMIM:609055
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Inertia, Depression, Violent behavior, Gait disturbance, Emotional lability, Impulsivity,... ORPHA:216873
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microphthalmia, Anophthalmia OMIM:616428
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Optic disc pallor, Anxiety, Retinal thinning OMIM:618970
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Emotional lability, Intenti... ORPHA:98890
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Optic atrophy OMIM:614322
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Inappropriate crying, Inappropriate laughter, Gait ataxia OMIM:619323
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy, Ataxia ORPHA:2732
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Optic Atrophy 5
Optic atrophy OMIM:610708
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Difficulty walking, Ataxia, Ptosis, Peripheral axonal neuropathy, Optic atrophy OMIM:615673
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia ORPHA:2572
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Ataxia OMIM:608611
Xq25 Microduplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Epicanthus, Anxiety, Abnormality of the palpebral fissures... ORPHA:521258
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Epicanthus, Thick eyebrow, Anxiety, Hyperactivity OMIM:300979
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Ceroid Lipofuscinosis, Neuronal, 1
Depression, Ataxia, Retinal degeneration, Irritability, Optic atrophy, Macular degeneration OMIM:256730
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Depression, Ataxia, Sensory axonal neuropathy, Optic atrophy, Bilateral ptosis ORPHA:329314
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Ceroid Lipofuscinosis, Neuronal, 3
Progressive inability to walk, Anxiety, Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Neurodegeneration With Brain Iron Accumulation
Dystonia, Optic atrophy, Retinopathy ORPHA:385
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy, Bradykinesia, Hemidystonia OMIM:619052
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Optic atrophy OMIM:616859
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Immunodeficiency 8
Hyperactivity OMIM:615401
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy OMIM:271930
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Autosomal Recessive Spastic Paraplegia Type 45
Spastic gait, Optic atrophy ORPHA:320396
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Ataxia OMIM:616881
Usher Syndrome, Type Iiib
Ataxia, Truncal ataxia, Optic disc pallor OMIM:614504
Lamb-Shaffer Syndrome
Downslanted palpebral fissures, Optic atrophy, Epicanthus, Anxiety OMIM:616803
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Optic atrophy OMIM:210000
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Ataxia, Optic neuritis, Peripheral demyelination OMIM:165200
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Autosomal Recessive Progressive External Ophthalmoplegia
Depression, Abnormal retinal morphology, Ataxia, Optic neuritis, Action tremor, Bradykinesia, Sen... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, P... OMIM:609260
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Irritability, Optic atrophy ORPHA:411493
Coffin-Siris Syndrome 8
Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis, Hyperactivity OMIM:618362
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Aggressive behavior, Abnormal autonomic nervous system physiology, Bradykinesia... ORPHA:329284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Microphthalmia, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Optic atrophy ORPHA:1538
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Abnormality of the optic nerve, Optic atrophy, Aplasia/Hypoplasia of the macula, ... ORPHA:33445
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Fraxe Intellectual Disability
Impulsivity, Epicanthus, Aggressive behavior, Hyperactivity ORPHA:100973
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Norrie Disease
Aggressive behavior, Retinal dysplasia, Hypoplasia of the iris, Microphthalmia, Retinal detachmen... OMIM:310600
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Optic nerve hypoplasia, Dysmetria, Attention deficit hyperactivity di... OMIM:614306
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Gait disturbance, Onion bulb formation, Optic a... OMIM:311070
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Progressive cerebellar ataxia, Dysmetria, Optic atrophy, Macular ... OMIM:164500
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Long eyelashes, Synophrys, Thick eyebrow, Anophthalmia, Telecanthus ORPHA:411986
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Gait disturbance, Craniofacial dystonia, Ataxia, Optic atrophy OMIM:617282
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Microphthalmia, ... OMIM:251270
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Pigmentary retinopathy, Irritability, Optic atrophy, Rod-cone dystrophy OMIM:264470
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Spastic Paraplegia 55, Autosomal Recessive
Difficulty walking, Onion bulb formation, Peripheral axonal neuropathy, Steppage gait, Optic atrophy OMIM:615035
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Depr... OMIM:619279
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy, Ataxia ORPHA:1171
Merrf
Optic atrophy, Ataxia ORPHA:551
Insulin-Like Growth Factor I Deficiency
Ptosis, Hyperactivity OMIM:608747
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy OMIM:617830
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Wolfram-Like Syndrome
Depression, Progressive cerebellar ataxia, Peripheral axonal neuropathy, Anxiety, Optic atrophy ORPHA:411590
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Aggressive behavior, Upslanted palp... OMIM:152950
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Bipolar affective disorder, Aggressiv... ORPHA:3077
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Motor axonal neuropathy, Sensory axonal neuropathy, Irritability, Ab... ORPHA:457205
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Nescav Syndrome
Inability to walk, Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Optic atrophy OMIM:613162
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis, Optic atrophy, Bilate... ORPHA:330050
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia, Ptosis, Irritability, Optic atrophy OMIM:618226
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Aggressive behavior, Abnormal autonomic nervous system... ORPHA:97229
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety OMIM:606438
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Spastic ataxia, Dysmetria, Optic atrophy, Broad-based gait OMIM:270500
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Orbital cyst, Microphthalmia, Anophthalmia OMIM:164180
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Ataxia, Irritability, Retinal arter... ORPHA:644
Leigh Syndrome With Leukodystrophy
Dystonia, Pigmentary retinopathy, Emotional lability, Progressive cerebellar ataxia, Ptosis, Opti... ORPHA:255241
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Optic atrophy, Emotional lability ORPHA:254343
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Ptosis, Microphthalmia, Retinal detachment, Optic atrophy ORPHA:1473
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Inappropriate behavior, Abnormal fear/anxiety-re... ORPHA:309246
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Ataxia, Retinal degeneration, Bilateral ptosis OMIM:214980
Microphthalmia, Isolated 3
Ankyloblepharon, Microphthalmia, Anophthalmia OMIM:611038
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Severe Canavan Disease
Inability to walk, Optic atrophy, Irritability, Lethargy ORPHA:314911
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Episodic ataxia, Truncal ataxia, Gait ataxia, Dysmetria, Optic atrophy OMIM:601338
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Combined Oxidative Phosphorylation Deficiency 15
Unsteady gait, Tremor, Optic atrophy, Ataxia OMIM:614947
Joubert Syndrome 28
Highly arched eyebrow, Ataxia, Pigmentary retinopathy, Optic disc pallor OMIM:617121
Leber Congenital Amaurosis 14
Falls, Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia ORPHA:3151
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Resting tremor, Ataxia, Ptosis, Peripheral axonal neuropathy, Optic... ORPHA:401768
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Optic atrophy ORPHA:99014
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Developmental And Epileptic Encephalopathy 16
Dystonia, Optic atrophy OMIM:615338
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Sarcosinemia
Optic atrophy, Ataxia, Emotional lability ORPHA:3129
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Optic atrophy, Ataxia OMIM:230600
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Synophrys, Hyperactivity OMIM:615541
Trisomy 13
Abnormal eyelash morphology, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal retinal vas... ORPHA:3378
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Aggressive behavior, Epicanthus, Hyperactivity, Downslanted palpebral fiss... OMIM:618342
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy, Ataxia OMIM:617207
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Optic atrophy, Retinal vascular tortuosity OMIM:618768
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Difficulty walking, Ataxia, Retinal degeneration, Unsteady gait, Impulsivity, Ptosis, Dow... ORPHA:442835
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Retinal dystrophy, Cone/cone-rod dystrophy, Thick eyebrow... ORPHA:1021
Intellectual Developmental Disorder, X-Linked 107
Upslanted palpebral fissure, Hyperactivity OMIM:301013
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Aggressive behavior, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity OMIM:617773
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Clark-Baraitser Syndrome
Aggressive behavior, Upslanted palpebral fissure, Narrow palpebral fissure, Epicanthus, Hyperacti... OMIM:617752
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Null Syndrome
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Ataxia, Peripheral de... ORPHA:280234
Leber Optic Atrophy
Postural tremor, Dystonia, Central retinal vessel vascular tortuosity, Ataxia, Leber optic atroph... OMIM:535000
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Ataxia, Irritability, Cherry red spot of the macula, Optic disc pallor OMIM:615281
Walker-Warburg Syndrome
Chorioretinal dysplasia, Retinal dystrophy, Abnormality of the optic nerve, Retinal dysplasia, Mi... ORPHA:899
Leigh Syndrome
Dystonia, Pigmentary retinopathy, Ataxia, Emotional lability, Ptosis, Optic atrophy OMIM:256000
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Pigmentary retinopathy, Gait disturbance, Toe walking, Opisthotonus, Generaliz... ORPHA:216866
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Lethargy OMIM:618228
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic atrophy OMIM:617086
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Ataxia, Optic disc pallor OMIM:616732
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Inertia, Abnormal nerve conduction velocity, Gait ... ORPHA:98755
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Hyperactivity ORPHA:85288
Gand Syndrome
Narrow palpebral fissure, Inappropriate laughter, Blepharophimosis, Hyperactivity OMIM:615074
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Dysmetria, ... ORPHA:504476
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Gait ataxia, Depression, Limb ataxia, Bradykinesia, Emotional lability, Sensory axonal neuropathy... OMIM:258450
Manitoba Oculotrichoanal Syndrome
Eyelid coloboma, Microphthalmia, Nasolacrimal duct obstruction, Anophthalmia OMIM:248450
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Optic atrophy, Irritability, Peripheral demyelination OMIM:618237
Optic Atrophy 6
Optic atrophy OMIM:258500
Cockayne Syndrome Type 1
Tremor, Pigmentary retinopathy, Difficulty walking, Gait disturbance, Ataxia, Conjunctivitis, Abs... ORPHA:90321
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Optic atrophy OMIM:618324
Ck Syndrome
Almond-shaped palpebral fissure, Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Ir... ORPHA:251383
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Cerebrooculonasal Syndrome
Upslanted palpebral fissure, Epicanthus, Sparse and thin eyebrow, Anophthalmia, Sparse eyelashes ORPHA:66625
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Emotional lability, Unsteady gait, Optic atrophy OMIM:603896
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Dysmetria, Optic atrophy OMIM:617810
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Ataxia OMIM:258501
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Ptosis, Optic atrophy OMIM:125250
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Head titubation, Ataxia, Dysmetria, Intention tremor, Optic atrophy OMIM:618688
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Decreased number of peripheral myelinated nerve fibers, Exaggerated startle r... ORPHA:320406
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Lethargy, Papilledema, Depression ORPHA:238624
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Synophrys, Hyperactivity OMIM:615824
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Retinal dystrophy ORPHA:139471
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Optic atrophy ORPHA:352596
Optic Atrophy 11
Ataxia, Dysmetria, Optic atrophy, Hyperactivity, Facial diplegia OMIM:617302
Multiple Mitochondrial Dysfunctions Syndrome 6
Dysmetria, Dystonia, Ataxia, Optic disc pallor OMIM:617954
Alazami-Yuan Syndrome
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity OMIM:617126
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Irritability OMIM:609056
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Dystonia, Epicanthus, Ataxia, Unsteady gait, Optic atrophy OMIM:245349
Optic Atrophy 9
Optic atrophy OMIM:616289
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive truncal ataxia, Progressive gait ataxia, Difficulty walking, Prog... ORPHA:363429
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Abnormal eyelid morphology, Upslant... ORPHA:2526
Ck Syndrome
Almond-shaped palpebral fissure, Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Ir... OMIM:300831
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Depression OMIM:248000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy OMIM:610125
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Leukodystrophy, Hypomyelinating, 6
Tremor, Optic atrophy, Ataxia, Dystonia OMIM:612438
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Ataxia, Absent brainst... ORPHA:1215
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Isolated Oxycephaly
Papilledema ORPHA:63440
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Unsteady gait, Irritability, Loss of ability to walk in early childhood, Optic atrophy ORPHA:401866
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Developmental And Epileptic Encephalopathy 36
Optic atrophy OMIM:300884
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Optic Atrophy 1
Optic atrophy, Ataxia OMIM:165500
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Downslanted palpebral fissures, Ataxia ORPHA:66631
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Optic atrophy OMIM:617669
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Blepharonasofacial Malformation Syndrome
Torsion dystonia, Blepharophimosis, Abnormal eyelash morphology, Epicanthus, Sparse lateral eyebr... ORPHA:1252
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Optic atrophy, Aggressive behavior, Ataxia OMIM:614707
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Dystonia, Gait ataxia, Sparse eyebrow, Dysmetria, Optic atrophy, Spars... OMIM:617988
Chromosome 19P13.13 Deletion Syndrome
Downslanted palpebral fissures, Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Optic atrophy, Lethargy ORPHA:26792
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Pigmentary retinopathy, Ataxia, Ptosis, Optic atrophy OMIM:252011
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety OMIM:606324
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Hyperactivity, Telecanthus OMIM:615286
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Optic atrophy, Ptosis OMIM:618238
Sclerosteosis
Ptosis, Optic atrophy, Facial palsy ORPHA:3152
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Ataxia, Dysmetria, Intention tremor, Optic atrophy, Rod-cone... OMIM:612674
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:615924
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
Joubert Syndrome 21
Ptosis, Retinopathy, Ataxia, Anophthalmia OMIM:615636
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Anophthalmia Plus Syndrome
Eyelid coloboma, Blepharophimosis, Anophthalmia ORPHA:1104
Spastic Paraplegia 2, X-Linked
Spastic gait, Optic atrophy, Dysmetria OMIM:312920
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Depression, Gait disturbance, Abnormal lower motor neuron morphology, Ataxia, E... OMIM:614298
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Microphthalmia With Limb Anomalies
Blepharophimosis, Short palpebral fissure, Microphthalmia, Anophthalmia, Downslanted palpebral fi... OMIM:206920
Leukodystrophy, Hypomyelinating, 2
Dystonia, Decreased motor nerve conduction velocity, Head titubation, Ataxia, Sensory axonal neur... OMIM:608804
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Optic atrophy, Broad-based gait, Gait ataxia OMIM:258650
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Pigmentary retinopathy, Retinal flecks, Depression, Gait disturbance, Loss of ability t... ORPHA:157850
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Progressive cerebellar ataxia, Optic atrophy, Gait ataxia, Intention tremor ORPHA:466794
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Exaggerated startle response, Motor axonal neuropathy, Optic atrophy, ... OMIM:609541
Hsd10 Mitochondrial Disease
Optic atrophy, Aggressive behavior, Retinal degeneration OMIM:300438
Hsd10 Disease
Gait disturbance, Tremor, Optic atrophy, Ataxia ORPHA:391417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1466
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Optic disc pallor OMIM:616204
Peroxisome Biogenesis Disorder 8B
Dysmetria, Optic atrophy, Ataxia, Retinal dystrophy OMIM:614877
Mucolipidosis Iv
Dystonia, Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Upslanted palpebral fissure, Unsteady gait, Optic atro... OMIM:617807
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Cockayne Syndrome Type 2
Difficulty walking, Gait disturbance, Ataxia, Conjunctivitis, Anophthalmia ORPHA:90322
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal autonomic nervous system physiology... ORPHA:35069
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Cherubism
Optic atrophy ORPHA:184
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Depression, Loss of ability to walk, Retinal degeneration, Emotional labi... ORPHA:79264
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, Aggressive behavior OMIM:617698
Oculotrichoanal Syndrome
Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Anophthalmia, Cryptophthalmos ORPHA:2717
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Anxiety, Optic atrophy, Attention deficit hyperacti... ORPHA:313892
3-Methylglutaconic Aciduria, Type I
Self-mutilation, Dystonia, Ataxia, Athetosis, Optic atrophy OMIM:250950
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Sotos Syndrome 3
Hyperactivity OMIM:617169
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Tremor, Pigmentary retinopathy, Depression, Difficulty walking, Progressive c... ORPHA:502423
Peho-Like Syndrome
Optic atrophy, Epicanthus OMIM:617507
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Downslanted palpebral fissures ORPHA:2185
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Leber optic atrophy, Athetosis, Optic atrophy OMIM:500001
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Blepharophimosis, Self-injurious behavior, Epicanthus, Broad eyebrow, Pto... ORPHA:494344
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Intention tremor, Bradykinesia, Emotional lability, Im... OMIM:610217
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Impulsivity, Synophrys, Hyperactivity OMIM:300143
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Epicanthus, Hyperactivity OMIM:300434
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Axial Spondylometaphyseal Dysplasia
Downslanted palpebral fissures, Optic atrophy, Telecanthus, Rod-cone dystrophy ORPHA:168549
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem a... ORPHA:52368
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Progressive cerebellar ataxia, Optic atrophy OMIM:605259
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Long eyelashes OMIM:617281
Malan Overgrowth Syndrome
Episodic ataxia, Optic disc hypoplasia, Anxiety, Downslanted palpebral fissures, Optic disc pallor ORPHA:420179
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Optic atrophy OMIM:614702
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... ORPHA:228360
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Ptosis, Irritability, Long eyelashes, Optic disc pallor OMIM:619076
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Epicanthus, Microphthalmia, Anophthalmia OMIM:615877
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Progressive gait ataxia, Ataxia, Dysmetria, Optic atrophy ORPHA:289494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Inability to walk by childhood/adolescence, Sensory axonal neuropathy, Steppage ... ORPHA:99947
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Optic atrophy, Limb dysmetria OMIM:270800
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Bradykinesia, Motor axonal neuropathy, Hand tremor, Optic atrophy, Sh... ORPHA:289560
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Thick eyebrow, Unsteady gait, Hyperactivity, Broad-based gait, Happy demeanor OMIM:617865
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Impulsivity, Depression, Hyperactivity ORPHA:88616
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Upslanted palpebral fissure, Optic atrophy, Thick eyebrow, Synophrys OMIM:618737
Holoprosencephaly
Chorioretinal coloboma, Dystonia, Highly arched eyebrow, Blepharophimosis, Upslanted palpebral fi... ORPHA:2162
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Upslanted palpebral fissure, Narrow palpebral fissure, E... ORPHA:363686
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Nasolacrimal duct obstruction, Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the... ORPHA:440727
Harel-Yoon Syndrome
Inability to walk, Upslanted palpebral fissure, Ataxia, Peripheral axonal neuropathy, Optic atrophy OMIM:617183
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Spastic Paraplegia 35, Autosomal Recessive
Dystonia, Difficulty walking, Ataxia, Dysmetria, Optic atrophy OMIM:612319
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Upslanted palpebral fissure, Epicanthus, Ataxia, Exaggerated startle response, Long pal... ORPHA:438216
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Spastic ataxia, Difficulty walking, Progressive cerebellar ataxia, Progre... ORPHA:137898
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Ptosis, Optic atrophy, Ataxia OMIM:613559
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Dystonia, Optic atrophy, Ptosis OMIM:617664
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Filippi Syndrome
Dystonia, Optic atrophy OMIM:272440
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Eyelid apraxia, Pigmentary retinopathy, Akinesia, Depression, Gait disturbance,... OMIM:234200
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bipolar affective disorder, Depression, Progressive gait ataxia, Loss of ability to walk, Progres... ORPHA:329308
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Combined Saposin Deficiency
Optic atrophy OMIM:611721
X-Linked Dominant Chondrodysplasia Punctata
Ptosis, Optic atrophy, Epicanthus, Microphthalmia ORPHA:35173
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy, Gait ataxia, Truncal titubation OMIM:618800
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Pontocerebellar Hypoplasia, Type 9
Downslanted palpebral fissures, Optic atrophy, Peripheral axonal neuropathy OMIM:615809
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Lethargy, Ataxia OMIM:614299
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Lethargy, Retinal dystrophy ORPHA:49827
Spastic Paraplegia Type 7
Spastic gait, Optic atrophy, Attention deficit hyperactivity disorder, Optic disc pallor ORPHA:99013
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Aggressive behavior ORPHA:505216
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Abnormal vitreous humor morphology, Abnormality of the optic nerve, Anophthalmia, Abnor... ORPHA:1101
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Dysmetria, Optic atrophy OMIM:607694
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Hyperact... ORPHA:352490
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Microphthalmia, Isolated 8
Entropion, Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615113
Lamb-Shaffer Syndrome
Optic atrophy, Epicanthus, Ataxia, Hyperactivity ORPHA:530983
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Gait disturbance, Optic disc pallor OMIM:617166
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Dysmetria, Optic atrophy ORPHA:529665
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Smith-Magenis Syndrome
Self-mutilation, Synophrys, Head-banging, Retinal detachment, Hyperactivity OMIM:182290
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Ataxia, Depression OMIM:604121
Adams-Oliver Syndrome 2
Narrow palpebral fissure, Optic atrophy, Microphthalmia OMIM:614219
Joubert Syndrome 1
Self-mutilation, Chorioretinal coloboma, Highly arched eyebrow, Aggressive behavior, Epicanthus, ... OMIM:213300
Metachromatic Leukodystrophy
Dystonia, Peripheral demyelination, Gait disturbance, Ataxia, Emotional lability, Decreased nerve... OMIM:250100
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Upslanted palpebral fissure, Epicanthus, Optic nerve hypoplasia, Optic atr... ORPHA:401777
Congenital Disorder Of Glycosylation, Type Ie
Abnormal macular morphology, Tremor, Ataxia, Downslanted palpebral fissures, Optic atrophy, Retin... OMIM:608799
Leukodystrophy, Hypomyelinating, 21
Dystonia, Optic atrophy, Ataxia, Athetosis OMIM:619310
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Warburg Micro Syndrome 1
Ptosis, Optic atrophy, Microphthalmia OMIM:600118
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... OMIM:608643
Spinocerebellar Ataxia Type 13
Gait ataxia, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Titubation, Optic atroph... ORPHA:98768
Developmental And Epileptic Encephalopathy 93
Inability to walk, Gait disturbance, Optic atrophy OMIM:618012
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia, Optic atrophy OMIM:300475
Developmental And Epileptic Encephalopathy 48
Long eyelashes, Long palpebral fissure, Rod-cone dystrophy, Optic disc pallor OMIM:617276
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Spastic Paraplegia 79, Autosomal Recessive
Head titubation, Ataxia, Dysmetria, Intention tremor, Optic atrophy OMIM:615491
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Difficulty walking, Ptosis, Optic atrophy OMIM:251900
Leukodystrophy, Progressive, Early Childhood-Onset
Dystonia, Thick eyebrow, Optic disc pallor OMIM:617762
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dystonia, Aggressive behavior, Ataxia, Dysmetria, Athetosis, Optic atrophy, Rod-cone dystrophy OMIM:617710
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Dysmetria OMIM:616680
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Epicanthus, Anxiety, Hyperactivity, Dow... OMIM:123450
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Ptosis, Long eyelashes, Optic disc pallor OMIM:617523
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Ataxia ORPHA:2289
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Gait disturbance, Loss of ability to walk, Ataxia, Optic atrophy ORPHA:225154
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Aggressive behavior, Blepharophimosis, Self-injurious behavior, Narrow pal... OMIM:600430
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Retinal degeneration, Low frust... ORPHA:168491
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:1173
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Depression, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Op... OMIM:619259
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Ataxia, Optic disc pallor OMIM:615838
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Microphthalmia, Hyperactivity, A... ORPHA:1942
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Decreased motor nerve conduction velocity, Limb ataxia,... ORPHA:95