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Gene: Zbtb5 MGI:1924601

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal behavior Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 2.62×10-08
decreased total retina thickness Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 1.72×10-27
decreased locomotor activity Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 4.41×10-08
decreased anxiety-related response Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 3.01×10-05
increased startle reflex Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 9.40×10-06
abnormal optic disk morphology Zbtb5tm2b(EUCOMM)Hmgu HOM   Early adult 2.22×10-05
decreased thigmotaxis Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 2.58×10-08
hyperactivity Zbtb5tm2b(EUCOMM)Hmgu HOM   Early adult 1.50×10-06
narrow eye opening Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 6.88×10-05
abnormal retina inner nuclear layer morphology Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 2.31×10-16
abnormal retina outer nuclear layer morphology Zbtb5tm2b(EUCOMM)Hmgu HOM Early adult 3.59×10-11

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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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
Tremor, Dysdiadochokinesis, Optic atrophy OMIM:311050
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... OMIM:615113
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Ptosis OMIM:620086
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Impulsivity, Tremor, Optic atrophy, Depression, Focal dystonia, Irritability, Gait... ORPHA:216873
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait OMIM:619052
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Dysdiadochokinesis, Optic atrophy OMIM:108650
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Ceroid Lipofuscinosis, Neuronal, 9
Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia OMIM:609055
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Striatonigral Degeneration, Infantile
Choreoathetosis, Dystonia, Optic atrophy, Dysphagia OMIM:271930
Spastic Paraplegia 43, Autosomal Recessive
Loss of ambulation, Optic atrophy, Gait disturbance OMIM:615043
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Hyperactivity, Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... OMIM:619470
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy OMIM:165300
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Chorioretinal coloboma ORPHA:2732
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Ataxia OMIM:614706
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy, Ataxia, Dysphagia ORPHA:1171
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Abnormal repetitive mannerisms OMIM:617830
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy, Depression OMIM:614296
Spastic Paraplegia 57, Autosomal Recessive
Loss of ambulation, Optic atrophy OMIM:615658
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Inappropriate laughter, Gait ataxia OMIM:619323
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... OMIM:619389
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Inability to walk, Synophrys, Long eyelashes, Abnormal repetitive mann... ORPHA:411986
Schizophrenia 15
Hyperactivity OMIM:613950
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor OMIM:620221
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Ataxia, Bilateral ptosis, Optic atrophy, Depression, Dysphagia, Sensory axonal neuropathy ORPHA:329314
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... OMIM:309548
Spinocerebellar Ataxia 7
Tremor, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cereb... OMIM:164500
Fraxe Intellectual Disability
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... ORPHA:100973
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Optic atrophy, Gait disturbance OMIM:616859
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia ORPHA:2572
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking OMIM:619425
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Leber Optic Atrophy And Dystonia
Dystonia, Optic atrophy, Bradykinesia, Athetosis, Leber optic atrophy, Dysphagia OMIM:500001
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia OMIM:610951
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels OMIM:614504
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Optic atrophy, Depression, Irritability, Macular degeneration, Retinal degeneration OMIM:256730
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability OMIM:613672
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Facial palsy, Abnormal retinal morphology, Action tremor, Optic atrophy, Depression, Brad... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Retinopathy, Self-m... OMIM:619422
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Tremor, Optic atrophy, Bradykinesia, Abnormal autonomic nervous system physi... ORPHA:329284
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Optic atrophy, Irritability, Long eyelashes, Long palpebral fissure ORPHA:411493
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Dysdiad... ORPHA:254881
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... OMIM:204100
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms, Thin eyebrow OMIM:619690
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Spastic gait ORPHA:320396
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Optic atrophy, Irritability, Pigmentary retinopathy, Dysphagia, Rod-cone dystrophy OMIM:264470
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia OMIM:617086
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Bilateral ptosis, Optic atrophy, Difficulty walking... ORPHA:330050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy, Depression ORPHA:411590
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Riboflavin Transporter Deficiency
Optic disc pallor, Ptosis, Ataxia, Facial palsy, Aggressive behavior, Tremor, Abnormality of macu... ORPHA:97229
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypopl... ORPHA:33445
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Choreoathetosis, Agitation, Retinal degeneration OMIM:300438
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Irritability, Optic atrophy OMIM:609056
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,... ORPHA:216866
Oculocerebrocutaneous Syndrome
Microphthalmia, Eyelid coloboma, Anophthalmia, Orbital cyst OMIM:164180
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral ptosis, Inability to walk, Optic atrophy, Downslanted palpebral fissures OMIM:619701
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, Dystonia, Ab... ORPHA:457205
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Xq25 Microduplication Syndrome
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Abnormality of the palpebral fi... ORPHA:521258
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Hypoplastic optic chiasm... OMIM:210000
Severe Canavan Disease
Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy ORPHA:314911
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacun... OMIM:152950
Nescav Syndrome
Inability to walk, Peripheral axonal neuropathy, Optic atrophy, Ataxia OMIM:614255
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... OMIM:311070
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Myoclonus, Intractable, Neonatal
Optic disc pallor, Athetosis, Dysphagia, Impaired oral bolus formation, Ptosis OMIM:617235
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... ORPHA:644
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Ptosis ORPHA:1473
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Emotional lability, Progressive gait ataxia, Optic atrophy, Progressive cerebellar ataxia ORPHA:254343
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Merrf
Optic atrophy, Ataxia ORPHA:551
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Pseudobulbar paralysis, Attenuation of retinal blood vessels OMIM:617082
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... OMIM:615075
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Dystonia, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait at... OMIM:601338
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Inability to walk, Optic atrophy OMIM:618768
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Tremor, Unsteady gait, Optic atrophy, Attention deficit hyperactivity disord... ORPHA:442835
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Loss of ambulation OMIM:618241
Trisomy 13
Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Optic atrophy, A... ORPHA:3378
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Anencephaly 2
Anophthalmia, Short palpebral fissure OMIM:619452
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy OMIM:616171
Hsd10 Disease
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia ORPHA:391417
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno... ORPHA:899
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... OMIM:610743
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Optic atrophy OMIM:620312
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... ORPHA:309246
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Leber Congenital Amaurosis 14
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
3-Methylglutaconic Aciduria, Type I
Ataxia, Optic atrophy, Athetosis, Dystonia, Self-mutilation OMIM:250950
Intellectual Developmental Disorder, Autosomal Dominant 67
Telecanthus, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Joubert Syndrome 28
Optic disc pallor, Ataxia, Pigmentary retinopathy, Highly arched eyebrow OMIM:617121
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... OMIM:609541
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Compulsive behaviors OMIM:615722
Leukoencephalopathy With Vanishing White Matter 4
Unsteady gait, Optic atrophy OMIM:620314
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Ataxia, Optic atrophy, Irritability, Dysphagia, Lethargy, Ptosis OMIM:618226
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... OMIM:617166
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... ORPHA:1021
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia ORPHA:3151
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Optic disc pallor, Dystonia, Dysphagia OMIM:618230
Pontocerebellar Hypoplasia, Type 9
Peripheral axonal neuropathy, Dystonia, Optic atrophy, Irritability, Dysphagia, Downslanted palpe... OMIM:615809
Joubert Syndrome 21
Anophthalmia, Ataxia, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy, Ptosis OMIM:615636
Chromosome Xq25 Duplication Syndrome
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow OMIM:300979
Sarcosinemia
Emotional lability, Optic atrophy, Ataxia ORPHA:3129
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Optic atrophy, Dystonia OMIM:618237
Cln3 Disease
Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradykinesia, Pig... ORPHA:228346
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure ORPHA:66625
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:139471
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy, Ataxia OMIM:617207
Chromosome 19P13.13 Deletion Syndrome
Downslanted palpebral fissures, Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anophthalmia, Ataxia, Tremor, Optic atrophy, Pigmentary reti... ORPHA:90321
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity ORPHA:99014
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... OMIM:617964
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Optic Atrophy 6
Optic atrophy OMIM:258500
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Dystonia, Ataxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Atheto... OMIM:617282
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia OMIM:617954
Leigh Syndrome
Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Emotional lability, Ptosis OMIM:256000
Leukodystrophy, Hypomyelinating, 21
Athetosis, Optic atrophy, Ataxia, Dystonia OMIM:619310
3-Methylglutaconic Aciduria, Type Ix
Choreoathetosis, Long eyelashes, Optic atrophy, Aggressive behavior OMIM:617698
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... ORPHA:157850
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Spinocerebellar Ataxia Type 1
Dystonia, Postural tremor, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:98755
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Postural tremor, Inability to walk by childhood/adolescence, Optic atrophy, Hand t... ORPHA:99947
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... OMIM:616881
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Torticollis, Dysphagia OMIM:619686
Gand Syndrome
Hyperactivity, Narrow palpebral fissure, Tics, Inappropriate laughter, Blepharophimosis OMIM:615074
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Limb tremor, Dysmetria, Gait ataxia, Tip... OMIM:614877
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Irritability, Cherry red spot of the macula, Ataxia, Optic disc pallor OMIM:615281
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait ORPHA:99013
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Epicanthus, Ataxia, Unsteady gait, Optic atrophy, Dystonia OMIM:245349
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Ataxia OMIM:258501
Spastic Paraplegia 2, X-Linked
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria OMIM:312920
Mitochondrial Complex I Deficiency, Nuclear Type 16
Choreoathetosis, Dystonia, Optic atrophy, Ptosis OMIM:618238
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, ... ORPHA:289560
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia OMIM:614707
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Ataxia OMIM:616732
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor OMIM:618688
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking, Dystonia... ORPHA:401768
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Gait disturbance, Emotional lability, Lethargy OMIM:603896
Lamb-Shaffer Syndrome
Epicanthus, Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive m... ORPHA:530983
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria OMIM:605259
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation OMIM:607694
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
4H Leukodystrophy
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ... ORPHA:289494
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Impulsivity, Tremor, Optic ... OMIM:614298
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagia, Ptosis OMIM:617664
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dystonia, Facial palsy, Bilateral ptosis, Optic atrophy, Truncal ataxia, Limb ataxia, Depression,... OMIM:258450
Anophthalmia Plus Syndrome
Blepharophimosis, Eyelid coloboma, Anophthalmia ORPHA:1104
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia OMIM:617810
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Optic atrophy, Retinal dystrophy, Anorexia ORPHA:49827
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, O... ORPHA:52368
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Ptosis OMIM:252011
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Dysphagia, Gait disturbance, Limb ... ORPHA:508093
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... OMIM:617302
Infantile Cerebellar-Retinal Degeneration
Athetosis, Optic atrophy, Retinal dystrophy, Ataxia OMIM:614559
Leber Optic Atrophy
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Idiopathic Intracranial Hypertension
Papilledema, Abnormal emotion, Lethargy, Depression ORPHA:238624
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss ... ORPHA:225154
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... ORPHA:363429
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... OMIM:271245
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation... ORPHA:98768
Infantile Neuroaxonal Dystrophy
Hyperactivity, Peripheral axonal neuropathy, Ataxia, Dystonia, Impulsivity, Unsteady gait, Optic ... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Akinesia, Retinal degeneration, Tremor, Optic at... OMIM:234200
Leukodystrophy, Hypomyelinating, 15
Dystonia, Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Intention tremor OMIM:617951
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Ptosis OMIM:125250
Norrie Disease
Retinal detachment, Aggressive behavior, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Reti... OMIM:310600
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia ORPHA:1177
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Upslanted palpebral fissure, Difficulty walking, Dy... OMIM:617807
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Bilateral ptosis, Optic atrophy, Abnormal retinal ne... ORPHA:1215
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Optic atrophy, Dystonia ORPHA:26792
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Epicanthus, Optic nerve hypoplasia, Upslanted palpebral fissure, Narrow palpebral ... ORPHA:363686
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Blep... OMIM:608643
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, O... ORPHA:141099
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Almond-shaped palpebral fissure, Dow... OMIM:620292
Sclerosteosis
Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Emotional l... ORPHA:79264
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Hooded eyelid, Aggressive behavior, Depression, Self-injurious behavior, Compulsiv... OMIM:619467
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Oculotrichoanal Syndrome
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos ORPHA:2717
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Optic atrophy, Irritability, Difficulty walking, Dystonia ORPHA:79097
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdia... OMIM:610217
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behav... OMIM:301069
Optic Atrophy-Intellectual Disability Syndrome
Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic ... ORPHA:401777
Arts Syndrome
Optic atrophy, Ataxia, Dysphagia OMIM:301835
Microphthalmia With Limb Anomalies
Anophthalmia, Abnormal eyelash morphology, Blepharophimosis, Microphthalmia, Downslanted palpebra... OMIM:206920
Myopathy With Extrapyramidal Signs
Epicanthus, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Tremor, Optic atrophy, Choreoath... OMIM:615673
Cockayne Syndrome Type 2
Anophthalmia, Ataxia, Gait disturbance, Conjunctivitis, Difficulty walking ORPHA:90322
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior OMIM:615541
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia OMIM:616204
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Irritability ORPHA:401866
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Optic atrophy, Choreoathetosis, Dystonia, Lethargy ORPHA:79312
Developmental And Epileptic Encephalopathy 48
Long palpebral fissure, Optic disc pallor, Rod-cone dystrophy, Long eyelashes OMIM:617276
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... OMIM:312080
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Blepharonasofacial Malformation Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Torsion dystonia, Blepharoph... ORPHA:1252
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Irritability, Long eyelashes, Optic disc pallor, Ptosis OMIM:619076
Congenital Hydrocephalus
Downslanted palpebral fissures, Optic atrophy, Macular hypoplasia ORPHA:2185
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia ORPHA:1947
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia OMIM:612319
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... OMIM:607259
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior ORPHA:369939
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,... OMIM:617710
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Intention tremor, Progressive cerebellar ataxia, Optic atrophy, Gait ataxia ORPHA:466794
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Microcephaly, Amish Type
Hypoplasia of the fovea, Irritability, Optic atrophy OMIM:607196
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Optic atrophy, Dysphagia, Self-injurious behavior, Chorioretinal coloboma, Attention ... ORPHA:494344
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Aggressive behavior ORPHA:505216
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Nasolacrimal duct... ORPHA:440727
Hsd10 Disease, Infantile Type
Restlessness, Dystonia, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Rod-cone d... ORPHA:391428
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Combined Oxidative Phosphorylation Deficiency 7
Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis, Ptosis OMIM:613559
Friedreich Ataxia
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Optic atrophy, Dysmetria,... ORPHA:95
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... OMIM:608804
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Upslanted palpebral fissu... OMIM:617183
Wolfram Syndrome 1
Ataxia, Tremor, Optic atrophy, Pigmentary retinopathy, Dysphagia, Ptosis OMIM:222300
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Depression OMIM:248000
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Dystonia OMIM:252650
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia OMIM:618233
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Holoprosencephaly
Epicanthus, Anophthalmia, Highly arched eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fi... ORPHA:2162
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos OMIM:248450
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Upslanted palpebral fissure, Synophrys, Optic atrophy, Thick eyebrow OMIM:618737
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrophy, Intent... OMIM:612674
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Peripheral axonal neuropathy, Tremor, Unsteady gait, Optic atrophy, Progressive c... ORPHA:137898
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Progressive cerebellar ataxia, Dystonia, Optic atrophy, Dysphagia OMIM:618868
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Retinal detachment, Ataxia, Aggressive behavior, Optic atrophy, Up... OMIM:619833
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia OMIM:612438
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... OMIM:609033
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Abnormal size of the palpebral fissures, Abnormal vitreous humor morphology, Abnorm... ORPHA:1101
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, I... OMIM:614381
Pontocerebellar Hypoplasia, Type 16
Ptosis, Optic atrophy, Dysphagia OMIM:619527
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Tremor, Dysmetria, Depression, Pigmentary retinopathy, Progressive cerebellar ... ORPHA:502423
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Coenzyme Q10 Deficiency, Primary, 2
Bulimia, Optic atrophy OMIM:614651
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Self-inj... ORPHA:228402
Developmental And Epileptic Encephalopathy 28
Epicanthus, Optic atrophy, Retinal degeneration OMIM:616211
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Ataxia, Postural tremor, Optic atrophy, Dysmetria, Autonomic bladder dysfunction, Dysph... ORPHA:447896
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Restlessness, Optic disc pallor, Optic atrophy, Self-biting, Athetosis OMIM:614388
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... ORPHA:254930
Joubert Syndrome 14
Epicanthus, Ataxia, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Irritability, Mi... OMIM:614424
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Madras Motor Neuron Disease
Optic atrophy, Facial palsy, Dysphagia ORPHA:137867
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Ptosis OMIM:605627
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Optic atrophy, Gait ataxia OMIM:618800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Long eyelashes, Dysphagia, Ptosis OMIM:617301
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Hyperactivity, Impulsivity, Synophrys OMIM:300143
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, Long eyelashes, Thick eyebrow OMIM:617281
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... OMIM:619260
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 107
Upslanted palpebral fissure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive ... OMIM:301013
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Dystonia, Emotional... OMIM:250100
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Epicanthus, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agi... OMIM:618056
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Epicanthus, Torticollis, Ataxia, Optic atrophy, Unilateral facial palsy, Rod-cone dystrophy OMIM:618547
Angelman Syndrome
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit... ORPHA:72
Autosomal Dominant Optic Atrophy, Classic Form
Ataxia, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysphagia, Temporal optic disc pa... ORPHA:98673
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Ataxia OMIM:618248
Trisomy 1Q
Anophthalmia, Downslanted palpebral fissures ORPHA:261344
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Anophthalmia, Downslanted palpebral fissures, Ptosis ORPHA:264200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Lethargy, Optic atrophy, Dystonia ORPHA:289916
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Optic atrophy, Depression, Progressive gait ataxia, Falls, Dysphagia, Loss ... ORPHA:329308
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Optic atrophy, Dysphagia, Opisthotonus, Dystonia OMIM:277470
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Athetosis, Dystonia, Self-mutilation, Ptosis ORPHA:52503
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking ORPHA:529665
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Peripheral axonal neuropathy, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Steppage gai... OMIM:616505
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Irritability, Dysphagia, Loss of ambulation, Craniofacial dystonia OMIM:618253
X-Linked Intellectual Disability, Najm Type
Gait disturbance, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Epicanthus, Retinal dystrophy, Ataxia, Highly arched eyebrow, A... OMIM:213300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Anophthalmia, Long eyelashes, Microphthalmia, Cryptophthalmos OMIM:615877
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Ptosis ORPHA:44
Charge Syndrome
Ptosis, Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Optic atrophy, Eyelid colo... ORPHA:138
Oculocerebrofacial Syndrome, Kaufman Type
Absent eyebrow, Chorioretinal dystrophy, Epicanthus, Telecanthus, Optic atrophy, Upslanted palpeb... ORPHA:2707
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... OMIM:617865
Cri-Du-Chat Syndrome
Hyperactivity, Epicanthus, Aggressive behavior, Optic atrophy, Downslanted palpebral fissures, Di... OMIM:123450
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Optic atrophy, Facial palsy OMIM:615085
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:1173
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Isolated Atp Synthase Deficiency
Ataxia, Optic atrophy, Dystonia, Lethargy, Rod-cone dystrophy, Ptosis ORPHA:254913
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Depr... ORPHA:845
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Retinal degeneration OMIM:249270
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Tru... OMIM:619259
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Upslanted palpe... ORPHA:496790
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Downslanted palpebral fissures ORPHA:3173
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Epicanthus, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperact... OMIM:620242
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Downslanted palpebral fis... OMIM:617523
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Ab... ORPHA:2556
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Developmental And Epileptic Encephalopathy 31B
Almond-shaped palpebral fissure, Optic atrophy, Opisthotonus, Irritability, Choking episodes, Lon... OMIM:620352
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Spastic Paraplegia 79B, Autosomal Recessive
Ataxia, Postural tremor, Head titubation, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Loss... OMIM:615491
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor, Step... ORPHA:101076
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy, Ptosis OMIM:612291
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Jaberi-Elahi Syndrome
Broad-based gait, Sparse eyelashes, Sparse eyebrow, Inability to walk, Tremor, Optic atrophy, Dys... OMIM:617988
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Epicanthus, Fundus atrophy, Synophrys, Optic atrophy, Thick eyebrow ORPHA:1970
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Ataxia ORPHA:2289
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia OMIM:618249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Optic disc pallor OMIM:613730
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Abnormal optic nerve morphology ORPHA:3412
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Truncal ataxia, Dysm... OMIM:164400
Spastic Paraplegia Type 2
Optic atrophy, Spastic gait, Ataxia ORPHA:99015
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Lethargy, Optic atrophy, Ataxia ORPHA:27
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Birk-Landau-Perez Syndrome
Optic atrophy, Limb ataxia, Upslanted palpebral fissure, Choreoathetosis, Long eyelashes, Difficu... OMIM:617595
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Peroxisomal Acyl-Coa Oxidase Deficiency
Epicanthus, Optic atrophy, Gait disturbance ORPHA:2971
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Buphth... ORPHA:99956
Leukodystrophy, Progressive, Early Childhood-Onset
Optic disc pallor, Thick eyebrow, Dystonia OMIM:617762
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Epicanthus, Telecanthus, Ataxia, Broad-based gait, Exaggerated startle response, Upslanted palpeb... ORPHA:438216
Xq12-Q13.3 Duplication Syndrome
Epicanthus, Optic disc pallor, Bulimia, Agitation ORPHA:314389
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Optic atrophy, Hypoplastic optic chiasm, Dysphagia OMIM:617669
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
2P15P16.1 Microdeletion Syndrome
Epicanthus, Telecanthus, Optic nerve hypoplasia, Facial palsy, Sparse eyebrow, Optic atrophy, Lon... ORPHA:261349
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Difficult... ORPHA:95433
Meningococcal Meningitis
Irritability, Papilledema, Lethargy, Anorexia ORPHA:33475
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Low frustration tolerance, Abnormal temper tantrums, ... ORPHA:163681
Pontocerebellar Hypoplasia, Type 2E
Irritability, Epicanthus, Optic atrophy, Opisthotonus OMIM:615851
Aniridia 2
Aniridia, Optic atrophy OMIM:617141
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... ORPHA:3205
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Rod-cone dystrophy, Synophrys, Dysphagia OMIM:252930
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Pettigrew Syndrome
Aggressive behavior, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious behavior, Stereo... OMIM:304340
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Axona... OMIM:601152
Meckel Syndrome
Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M... ORPHA:564
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Pelizaeus-Merzbacher Disease
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia ORPHA:702
Juvenile Sialidosis Type 2
Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation, Cherry red spot of the macula ORPHA:93399
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy OMIM:616811
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Dystonia, Emotional ... ORPHA:309263
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology OMIM:617516
Microphthalmia, Syndromic 9
Blepharophimosis, Anophthalmia, Bilateral microphthalmos OMIM:601186
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Epicanthus, Ataxia, Optic atrophy, Long eyelashes, Inappropriate laughter, Difficulty walking OMIM:618476
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Optic atrophy, Increased cup-to-disc ratio, Dysphagia ORPHA:500144
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Laterally curved eyebr... OMIM:300166
19P13.13 Microdeletion Syndrome
Epicanthus, Optic nerve hypoplasia, Optic atrophy, Long eyelashes, Attention deficit hyperactivit... ORPHA:357001
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microphthalmia OMIM:610651
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Optic atrophy, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Optic atrophy, Dysmetria, Depression, Pigmentary retinopathy, Rod-cone dystrophy, Spastic... ORPHA:96180
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia, Difficul... ORPHA:309271
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Choreoa... ORPHA:2715
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Sparse eyebrow, Optic atrophy, Upslanted palpebral fissure, Dysphagia, Abnormal... ORPHA:496641
Fibular Hemimelia
Anophthalmia, Difficulty walking ORPHA:93323
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Ataxia, Depression ORPHA:309288
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Ataxia, Depression OMIM:604121
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Optic atrophy, Dystonia, Action tremor ORPHA:66634
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Optic atrophy, Blepharophimosis, Microphthalmia, True anophthalmia ORPHA:1106
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysphagia ORPHA:485421
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Aggressive behavi... ORPHA:909
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Ptosis ORPHA:436271
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Broad-based gait, Optic atrophy, Ptosis OMIM:609037
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Cerebrotendinous Xanthomatosis
Optic disc pallor, Ataxia, Xanthelasma, Pseudobulbar paralysis, Abnormality of central somatosens... OMIM:213700
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Ataxia, Optic atrophy, Depression, Head tremor ORPHA:314404
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ... ORPHA:2388
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Depression OMIM:604928
Fraser Syndrome 1
Absent eyebrow, Anophthalmia, Absent eyelashes, Bilateral microphthalmos, Upper eyelid coloboma, ... OMIM:219000
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Tremor, Optic disc pallor, Ataxia, Dysmetria OMIM:618527
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dystonia, Ataxia, Head titubation, Optic atrophy, Dysmetria, Dysphagia, Intention tremor OMIM:619708
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... OMIM:614863
Charge Syndrome
Anophthalmia, Facial palsy, Unilateral microphthalmos, Retinal coloboma, Dysphagia, Microphthalmi... OMIM:214800
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Ataxia, Exaggerated startle response OMIM:268800
Friedreich Ataxia
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... OMIM:229300
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Microphthalmia, Ptosis OMIM:201180
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... OMIM:606519
De Sanctis-Cacchione Syndrome
Entropion, Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Choreoathetosis, Conjunctivi... OMIM:278800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617527
Branchiooculofacial Syndrome
Telecanthus, Anophthalmia, Facial palsy, Nasolacrimal duct obstruction, Upslanted palpebral fissu... OMIM:113620
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Jacobsen Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstructio... OMIM:147791
Halperin-Birk Syndrome
Inability to walk, Pseudobulbar paralysis, Long eyelashes, Optic atrophy OMIM:618651
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Retinal dystrophy, Bilateral ptosis, Optic atrophy, Long eyelashes, Long palpebral fissure, Downs... ORPHA:324540
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia, Thick eyebrow OMIM:620047
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Microphthalmia, Syndromic 1
Anophthalmia, Aganglionic megacolon, Aggressive behavior, Optic disc coloboma, Chorioretinal colo... OMIM:309800
Focal Dermal Hypoplasia
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia OMIM:305600
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Optic atrophy, Gait ataxia, P... ORPHA:255210
Biotinidase Deficiency
Conjunctivitis, Ataxia, Optic atrophy, Lethargy OMIM:253260
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy, Abnormally large globe ORPHA:363417
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Ataxia, Chorioretinal atrophy, Vi... OMIM:267750
Microphthalmia, Syndromic 6
Orbital cyst, Microphthalmia, Anophthalmia, Retinal dystrophy OMIM:607932
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Optic atrophy, Head-banging, St... ORPHA:86309
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Optic nerve hypoplasia, Facial palsy, Almond-shaped palpebral fissure, Abnorma... ORPHA:508498
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Mot... OMIM:231550
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Epiblepharon, Irritability, Dysphagia, Thick eyebrow OMIM:618367
Peroxisome Biogenesis Disorder 1B
Epicanthus, Rod-cone dystrophy, Optic atrophy OMIM:601539
Fraser Syndrome
Anophthalmia, Lacrimal duct aplasia, Malformed lacrimal duct, Microphthalmia, Cryptophthalmos ORPHA:2052
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Highly arched eyebrow ORPHA:293967
Mucopolysaccharidosis Type 2
Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Impulsivity, Aggressive behavior... ORPHA:580
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Autosomal Dominant Hypocalcemia
Emotional lability, Optic atrophy, Writer's cramp, Depression ORPHA:428
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Arima Syndrome
Retinal dystrophy, Ataxia, Optic atrophy, Chorioretinal coloboma, Polydipsia, Ptosis OMIM:243910
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:79255
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Microphthalmia OMIM:127000
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy OMIM:259900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Almond-shaped palpeb... ORPHA:438213
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Epicanthus, Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Pineoblastoma
Papilledema, Retinoblastoma, Lethargy ORPHA:251909
Leptospirosis
Papilledema, Anorexia, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular cotton wool s... ORPHA:509
Craniofacial Microsomia 1
Anophthalmia, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Microphthalmia, Ptosis OMIM:164210
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Epicanthus, Telecanthus, Exaggerated startle response, Narrow palpebral fissure, Downslanted palp... OMIM:619522
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... ORPHA:353277

Histopathology

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

There is no histopathology data for Zbtb5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zbtb5.

No publications found that use IMPC mice or data for Zbtb5.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Zbtb5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zbtb5tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Zbtb5tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Zbtb5tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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