Gene Summary

Name:
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
Synonyms:
E130120L08Rik,  Liprin-alpha2

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
abnormal gait Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 1.28×10-07
abnormal retinal vasculature morphology Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 7.37×10-05
abnormal retinal blood vessel morphology Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 2.75×10-05
head bobbing Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 3.50×10-07
abnormal optic disk morphology Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 3.76×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 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%
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)
uterus 0.0%
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.

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Ppfia2 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 Ppfia2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Spastic paraplegia, Babinski sign, Optic atrophy OMIM:615658
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, Babinski sign OMIM:108650
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Spastic paraparesis, Babinski sign OMIM:613672
Optic Atrophy--Spastic Paraplegia Syndrome
Spastic paraplegia, Optic atrophy OMIM:311100
Ceroid Lipofuscinosis, Neuronal, 9
Ataxia, Progressive inability to walk, Optic atrophy, Rigidity, Rod-cone dystrophy OMIM:609055
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Retinopathy, Optic atrophy, Rigid... ORPHA:385
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Babinski sign, Optic atrophy, Spasticity OMIM:614322
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Babinski sign, Abnormality of peripheral nerve conduction,... ORPHA:431329
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Spastic paraplegia, Optic atrophy OMIM:618572
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Hemidystonia, Optic at... OMIM:619052
Autosomal Recessive Spastic Paraplegia Type 45
Spastic paraplegia, Lower limb spasticity, Spastic gait, Babinski sign, Optic atrophy ORPHA:320396
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Choreoathetosis, Spasticity OMIM:271930
Spastic Paraplegia 74, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Peripheral axonal neuropathy, Babinski sign OMIM:616451
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Abnormal pyramidal sign, Spastic diplegia, Babinski sign, Optic... OMIM:616859
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Optic atrophy ORPHA:2572
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Hypertonia, Optic atrophy, Ataxia ORPHA:2732
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Optic Atrophy 5
Optic atrophy OMIM:610708
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Spastic diplegia, Stereotypy OMIM:617830
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Op... OMIM:270500
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Optic atrophy OMIM:210000
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Ataxia, Clonus, Optic atrophy, Spasticity OMIM:616881
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Upper limb spasticity, Ankle clonus, Lower limb spasticity, Babinski sign, Opt... OMIM:618768
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Lower limb spasticity, Spastic gait, Babinski sign, Optic atrophy OMIM:613162
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Usher Syndrome, Type Iiib
Optic disc pallor, Truncal ataxia, Ataxia OMIM:614504
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Clonus, Difficulty walking, Onion bulb formation, Peripheral axonal neuropath... OMIM:615035
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Incoordination, Ataxia, Spasticity OMIM:608611
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Babinski sign, Intention tr... ORPHA:98890
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Gait disturbance, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemipar... ORPHA:3151
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Camos Syndrome
Optic atrophy, Progressive extrapyramidal movement disorder, Ataxia, Spasticity ORPHA:83472
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyr... ORPHA:216873
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Optic atrophy, Spast... OMIM:258501
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Spasticity OMIM:616370
Null Syndrome
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Progressive spastic q... ORPHA:280234
Spastic Paraplegia, Optic Atrophy, And Dementia
Spastic paraplegia, Optic atrophy, Optic disc pallor OMIM:182830
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Progressive spast... ORPHA:468661
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Nescav Syndrome
Inability to walk, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spasticity OMIM:614255
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy, Ataxia OMIM:610951
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spastic tetraparesis, Peripheral axonal neuropathy, Progressive spastic parapares... ORPHA:496756
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Merrf
Optic atrophy, Ataxia ORPHA:551
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Optic atrophy, Spastic tetraplegia, Ataxia OMIM:230600
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Gait ataxia, Truncal ataxia, Episodic ataxia, Incoordination, Hemiparesis, Dysmetria, O... OMIM:601338
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Spastic paraparesis, Lower limb spasticity, Spastic gait, Dysmetria, Babinski... OMIM:312920
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Developmental And Epileptic Encephalopathy 16
Dystonia, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Optic atrophy OMIM:615338
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction velocity, Ataxia, Optic atrophy ORPHA:99014
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Gait disturbance, Onion bulb formation, Optic a... OMIM:311070
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Macular dystrophy, Ataxia, Abnormality of the optic nerve, Optic atrophy, Rig... ORPHA:33445
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Peripheral axonal neuropathy, Spastic tetraplegia, Optic atrophy, Spasticity OMIM:617207
Leukoencephalopathy With Ataxia
Abnormal chorioretinal morphology, Limb ataxia, Gait ataxia, Optic neuropathy OMIM:615651
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Dysm... OMIM:616204
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic atrophy, Spasticity OMIM:617086
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy, Ataxia ORPHA:1171
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Progressive inability to walk, Parkinsonism, Myoclo... OMIM:204200
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Babinski sign, Spasticity OMIM:618770
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Choreoathetosis, Cogwheel rigidity, Gait disturbance, Loss of ability to w... ORPHA:225154
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Slurred speech, Gait ataxia, Optic atrophy OMIM:619323
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Intention tremor, Head titubation, Ataxia, Dysmetria, Babinski sign, Optic atrophy OMIM:618688
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Spasticity OMIM:309555
Leukodystrophy, Hypomyelinating, 2
Dystonia, Choreoathetosis, Decreased motor nerve conduction velocity, Spastic paraparesis, Head t... OMIM:608804
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hemi... ORPHA:352596
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Leber Optic Atrophy
Postural tremor, Dystonia, Central retinal vessel vascular tortuosity, Ataxia, Leber optic atroph... OMIM:535000
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Spastic diplegia, Ataxia, Unsteady gait, Myoclonus, Babinski sign, Progressive spasti... ORPHA:401866
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babi... ORPHA:504476
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Optic Atrophy 6
Optic atrophy OMIM:258500
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Rigidity, Retinal degeneration, Spasticity OMIM:616211
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Optic atrophy OMIM:614947
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Combined Saposin Deficiency
Hyperkinetic movements, Myoclonus, Babinski sign, Fasciculations, Optic atrophy OMIM:611721
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Rod-cone dystrophy, Drusen, Optic disc pallor OMIM:616394
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Myoclonus, Optic atrophy, Macular degeneration, Spasticity OMIM:256730
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Optic atrophy, Spasticity OMIM:617810
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Abnormal autonomic nervous system physiology, Bradykinesia... ORPHA:329284
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Parkinsonism, Babinsk... ORPHA:289560
Leber Congenital Amaurosis 14
Falls, Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive truncal ataxia, Progressive gait ataxia, Difficulty walking, Abno... ORPHA:363429
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Optic atrophy, Choreoathetosis, Spasticity OMIM:612438
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Lower limb spasticity, Spastic gait, Babinski sign, Optic atr... OMIM:270800
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Spasticity OMIM:617933
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Ataxia OMIM:616732
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Ataxia, Dysmetria, Intention tremor, Babinski sign, Optic at... OMIM:612674
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Atax... OMIM:612319
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Dysmetria, Intention tre... OMIM:615491
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
Spinocerebellar Ataxia, Autosomal Recessive 28
Gait ataxia, Poor fine motor coordination, Abnormal pyramidal sign, Truncal titubation, Optic atr... OMIM:618800
Spastic Paraplegia Type 2
Abnormality of extrapyramidal motor function, Ataxia, Spastic gait, Babinski sign, Optic atrophy,... ORPHA:99015
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spastic diplegia, Ataxia, Lower limb spasticity, Babinski sign, Cherry red spot of the macula, Op... OMIM:615281
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Abnormal pyramidal sign, Optic atrophy OMIM:618228
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Pigmentary retinopathy, Gait disturbance, Toe walking, Opisthotonus, Optic dis... ORPHA:216866
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Hyperactivity, Tetraplegia, Optic atrophy OMIM:274270
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Spasticity OMIM:618248
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Ataxia, Retinal arteriolar tortuosi... ORPHA:644
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Optic atrophy, Choreo... ORPHA:391417
Joubert Syndrome 28
Optic disc pallor, Oculomotor apraxia, Pigmentary retinopathy, Ataxia OMIM:617121
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Leber Congenital Amaurosis 2
Eye poking, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Ataxia, Retinal degeneration OMIM:214980
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Stereotypy, Spasticity OMIM:617393
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Leber optic atrophy, Upper motor neuron dysfunction, Athetosis, Optic atr... OMIM:500001
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Optic Atrophy 9
Optic atrophy OMIM:616289
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Dysmetria, Optic disc pallor, Spasticity OMIM:617954
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Gait ataxia, Progressive cerebellar ataxia, Intention tremor, Frequent falls, Optic atrophy, Spas... ORPHA:466794
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Gait ataxia, Optic atrophy, Broad-based gait OMIM:258650
Isolated Oxycephaly
Papilledema ORPHA:63440
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Optic atrophy, Myoclonus, Spasticity OMIM:617669
Developmental And Epileptic Encephalopathy 36
Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:300884
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Myoclonus OMIM:619303
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Dystonia, Stereotypical hand wringing OMIM:618760
Severe Canavan Disease
Inability to walk, Lethargy, Babinski sign, Decerebrate rigidity, Optic atrophy, Spasticity ORPHA:314911
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Dystonia, Poor fine motor coordination, Ataxia, Unsteady gait, Spastic tetrap... OMIM:245349
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Spastic paraparesis, Gait disturbance, Babinski sign, ... ORPHA:101076
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Optic atrophy ORPHA:330050
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Opticocochleodentate Degeneration
Optic atrophy, Spastic tetraplegia OMIM:258700
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Pigmentary retinopathy, Hypertonia, Babinski sign, Optic atrophy, Rod-cone dystrophy OMIM:264470
Peroxisome Biogenesis Disorder 8B
Spastic paraparesis, Ataxia, Retinal dystrophy, Dysmetria, Optic atrophy, Spasticity OMIM:614877
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Difficulty walking, Decreased number of peripheral ... ORPHA:320406
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Gait disturbance, Slurred speech, Abnormal... ORPHA:98755
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic medication, Abnormal reti... ORPHA:254886
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Retinal detachme... OMIM:251270
Optic Atrophy 1
Optic atrophy, Ataxia OMIM:165500
Optic Atrophy 11
Facial diplegia, Hyperkinetic movements, Ataxia, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Optic atrophy OMIM:618324
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor OMIM:217080
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Spastic paraplegia, Gait ataxia, Spastic ataxia, Slurred speech, Lower limb h... OMIM:607259
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity ORPHA:100973
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Temporal optic disc pallor, Abnormal pyramidal sign, Titubation, Babinski sig... ORPHA:459056
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... ORPHA:157941
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, Hypertonia, Poor fine mot... ORPHA:137898
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Spasticity OMIM:125250
Developmental And Epileptic Encephalopathy 93
Inability to walk, Gait disturbance, Spastic tetraparesis, Optic atrophy OMIM:618012
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Optic atrophy, Ataxia ORPHA:329314
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand tremor, Poor fine motor coordination, Inability to walk by childhood/adoles... ORPHA:99947
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
3-Methylglutaconic Aciduria, Type Ix
Clonus, Hypertonia, Optic atrophy, Spasticity OMIM:617698
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Babinski sign, Dysmetria, Optic atrophy, Spastic dysarthria OMIM:616680
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Spasticity OMIM:618229
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Motor axonal neuropathy, Sensory axonal neuropathy, Abnormal periphe... ORPHA:457205
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Spastic tetraplegia, Optic atrophy, Choreoathetosis, Spasticity OMIM:618238
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Gait disturbance, Optic disc pallor OMIM:617166
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Optic disc hypoplasia, Hyperkinetic movements, M... ORPHA:561854
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy, Spastic diplegia OMIM:615075
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Optic disc pallor, Slowed slurred s... ORPHA:99013
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Myoclonus, Stereotypy, Babinski sign, Rigidity OMIM:600795
Mucolipidosis Iv
Dystonia, Retinal degeneration, Spastic tetraplegia, Babinski sign, Optic atrophy OMIM:252650
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Choreoathetosis, Myoclonus OMIM:609056
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Abnormal ... ORPHA:52368
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... OMIM:618917
Leukodystrophy, Hypomyelinating, 22
Inability to walk, Lower limb hypertonia, Optic disc pallor, Upper limb hypertonia OMIM:619328
Progressive Myoclonic Epilepsy Type 3
Chin myoclonus, Progressive cerebellar ataxia, Myoclonus, Optic atrophy, Limb myoclonus, Progress... ORPHA:263516
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Optic atrophy, Spasticity ORPHA:529665
Neuronal Intranuclear Inclusion Disease
Hypertonia, Optic atrophy, Ataxia ORPHA:2289
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Decreased motor nerve conduction velocity, Limb ataxia,... ORPHA:95
Hsd10 Mitochondrial Disease
Retinal degeneration, Spastic tetraplegia, Optic atrophy, Choreoathetosis, Spasticity OMIM:300438
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Optic atrophy, Spasticity OMIM:614299
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Retinal degeneration, Unsteady g... ORPHA:442835
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Optic atrophy, Hypertonia ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, At... ORPHA:1215
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Sarcosinemia
Optic atrophy, Tetraparesis, Ataxia ORPHA:3129
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Myoclonus, Athetosis, Optic atrophy, Rigidity OMIM:618241
Leukodystrophy, Hypomyelinating, 21
Dystonia, Tetraparesis, Ataxia, Athetosis, Optic atrophy OMIM:619310
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Titubation, ... ORPHA:98768
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Abnormal autonomic nervous system physiology, Babinski sign, Optic atrophy, Clonus, M... OMIM:614498
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Sensory axonal neuropathy, Exaggerated startle response, Motor axonal neuropa... OMIM:609541
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Deafness, Dystonia, And Cerebral Hypomyelination
Tetraplegia, Dystonia, Abnormal pyramidal sign, Optic atrophy OMIM:300475
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Pigmentary retinopathy, Ataxia, Myoclonus, Babinski sign, Optic atrophy, Spasticity OMIM:252011
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... ORPHA:97229
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Pontocerebellar Hypoplasia Type 10
Hypertonia, Optic atrophy, Spasticity ORPHA:411493
Leber Congenital Amaurosis 1
Eye poking, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Metachromatic Leukodystrophy
Dystonia, Peripheral demyelination, Chorea, Gait disturbance, Ataxia, Spastic tetraplegia, Babins... OMIM:250100
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Waddling gait, Stereotypy, Babinski sign, Progressive spastic parap... ORPHA:280763
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Dysmetria, Optic atrophy, Choreoathetosis, Spas... OMIM:617988
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Pigmentary retinopathy, Poor motor coordination, Poor fine motor coordination, Loss o... ORPHA:79264
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Poor coordination, Spasticity, Ataxia, Stereo... OMIM:617695
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Optic atrophy, Spasticity OMIM:614702
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Pontocerebellar Hypoplasia, Type 9
Clonus, Optic atrophy, Peripheral axonal neuropathy, Spasticity OMIM:615809
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Myoclonus, Spasticity OMIM:617281
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Abnormal pyramidal sign, Ataxia, Intention tremor, Athetosis, Optic ... OMIM:617951
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Dysmetria, Inte... OMIM:616505
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Unsteady gait, Optic atrophy, Spasticity OMIM:603896
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Dysmetria, Babinski sign, Optic atrophy, Spasticity OMIM:607694
3-Methylglutaconic Aciduria, Type I
Dystonia, Ataxia, Spastic tetraplegia, Athetosis, Optic atrophy, Spasticity OMIM:250950
Cherubism
Optic atrophy ORPHA:184
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Unsteady gait, Stereotypy, Optic atrophy, Spasticity OMIM:617807
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Dystonia, Optic atrophy, Choreoathetosis, Spasticity OMIM:617664
Brown-Vialetto-Van Laere Syndrome 2
Clumsiness, Ataxia, Facial palsy, Tongue fasciculations, Optic atrophy OMIM:614707
Schindler Disease, Type I
Optic atrophy, Myoclonus, Spasticity OMIM:609241
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia, Babinski sign, Optic atrophy OMIM:618226
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Rigidity, Myoclonus OMIM:619057
Mitochondrial Complex I Deficiency, Nuclear Type 28
Abnormal pyramidal sign, Lower limb spasticity, Optic neuropathy, Optic atrophy, Choreoathetosis OMIM:618249
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Optic atrophy, Peripheral axonal neuropathy ORPHA:411590
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Lethargy, Incoordination, Head titubation, Dysmetria, Intention ... OMIM:301790
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Abnormality of extrapyramidal motor function, Toe walking, Bull's eye maculopathy, Rigi... ORPHA:157850
Leigh Syndrome With Leukodystrophy
Dystonia, Pigmentary retinopathy, Progressive cerebellar ataxia, Optic atrophy, Progressive spast... ORPHA:255241
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Gait disturbance, Optic nerve hypoplasia, Optic atrophy, Rigidity, Spasti... ORPHA:163937
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Hemiplegia/hemiparesis, Optic atrophy, Choreoathetosis ORPHA:289916
Madras Motor Neuron Disease
Facial palsy, Optic atrophy, Limb fasciculations, Babinski sign ORPHA:137867
Mental Retardation, Autosomal Recessive 39
Stereotypy, Hyperactivity OMIM:615541
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Gait disturbance, Spastic tetraparesis, Ataxia, Optic disc pallor OMIM:615838
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Arts Syndrome
Tetraplegia, Optic atrophy, Ataxia OMIM:301835
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Optic atrophy, Spastic tetraplegia, Peripheral demyelination OMIM:618237
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Dystonia, Progressive cerebellar ataxia, Babinski sign, Clonus, Optic atrophy OMIM:618868
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal lower ... OMIM:614298
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Stereotypy, Hyperactivity OMIM:609425
Cerebellar Ataxia-Hypogonadism Syndrome
Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:1173
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Dystonia, Clumsiness, Autonomic bladder dysfunction, Intention tremor, Ataxia, D... ORPHA:447896
Peho-Like Syndrome
Optic atrophy, Myoclonus OMIM:617507
Woods Syndrome
Lingual dystonia, Spastic paraplegia, Optic atrophy OMIM:615236
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia ORPHA:66631
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, ... ORPHA:137902
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Difficulty walking, Head tremor, Progressive cerebellar ataxia, Optic atrophy, Spast... ORPHA:95433
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Eyelid apraxia, Motor tics, Akinesia, Abnormality of extrapyramidal mo... OMIM:234200
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia OMIM:122860
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesi... ORPHA:35069
Harel-Yoon Syndrome
Inability to walk, Ataxia, Peripheral axonal neuropathy, Optic atrophy, Spasticity OMIM:617183
Lamb-Shaffer Syndrome
Ataxia, Stereotypy, Upper motor neuron dysfunction, Hyperactivity, Optic atrophy ORPHA:530983
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Cataplexy, Ataxia, Spasticity OMIM:604121
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Clumsiness, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Ba... OMIM:619259
Spinocerebellar Ataxia 1
Dysdiadochokinesis, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... OMIM:164400
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysmetria, Optic atrophy, Ataxia OMIM:618233
3-Methylglutaconic Aciduria Type 9
Clonus, Optic atrophy, Spasticity ORPHA:505216
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Gait ataxia, Limb ataxia, Bradykinesia, Sensory axonal neuropathy, Facial palsy, Parkinsonism, St... OMIM:258450
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Progressive gait ataxia, Progressive spastic quadri... ORPHA:329308
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Norrie Disease
Retinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:310600
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Intention tremor, Bradykinesia, Dy... OMIM:610217
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Vocal cord paresis, Axonal degeneration/regeneration, ... OMIM:601152
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Stereotypy, Upper motor neuron dy... ORPHA:275864
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Optic atrophy, Choreoathetosis ORPHA:27
Infantile Cerebellar-Retinal Degeneration
Athetosis, Optic atrophy, Ataxia, Retinal dystrophy OMIM:614559
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Retinal detachment ORPHA:1473
Lamb-Shaffer Syndrome
Optic atrophy OMIM:616803
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Clumsiness, Loss of ability to walk, Ataxia, Sensory axonal neuropathy, Athetosis, Optic atrophy OMIM:271245
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism ORPHA:140989
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Cofs Syndrome
Hypertonia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Joubert Syndrome 8
Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Ataxia, Optic disc pallor OMIM:612291
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Increased cup... ORPHA:98977
Mental Retardation With Language Impairment And With Or Without Autistic Features
Stereotypy, Attention deficit hyperactivity disorder, Speech apraxia OMIM:613670
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Spasticity OMIM:618766
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Clumsiness, Progressive gait ataxia, Decreased nerve conduction velocity, ... ORPHA:309256
Snijders Blok-Campeau Syndrome
Speech apraxia, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Optic Atrophy 8
Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials OMIM:616648
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Dystonia, Abnormality of extrapyramidal motor function, Optic atrophy, Spasticity OMIM:614739
Lissencephaly 8
Optic atrophy, Spasticity OMIM:617255
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Spastic diplegia, Poor coordination, Spastic tetraparesis, Hyp... ORPHA:391428
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dystonia, Hypertonia, Ataxia, Limb hypertonia, Spastic tetraplegia, Dysmetria, Athetosis, Optic a... OMIM:617710
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hemiplegia/hemiparesis, My... ORPHA:79279
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Ataxia, Retinal degeneration OMIM:249270
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic tetraplegia, Decreased nerve conduction v... OMIM:256600
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Optic atrophy, Hyperactivity ORPHA:369939
Krabbe Disease
Peripheral demyelination, Hypertonia, Decerebrate rigidity, Decreased nerve conduction velocity, ... OMIM:245200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Difficulty walking, Optic atrophy, Spasticity OMIM:251900
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Gait disturbance, Hypertonia, Optic atrophy ORPHA:588
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Axonal degeneration, Optic neuropathy, Optic atrophy, Retinopathy, Spasticity OMIM:616811
Hemimegalencephaly
Myoclonus, Optic atrophy, Hemiparesis ORPHA:99802
Canavan Disease
Hypertonia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy, Ataxia OMIM:613559
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, Gait ataxia, Clumsiness, Ataxia, Unsteady gait, Spastic tetraplegia, Frequent ... ORPHA:1947
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Optic atrophy, Choreoathetosis, Spasticity ORPHA:702
Leigh Syndrome
Dystonia, Pigmentary retinopathy, Ataxia, Optic atrophy, Spasticity OMIM:256000
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral palsy, Attention ... ORPHA:352490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Cerebral Visual Impairment
Clumsiness, Oculomotor apraxia, Retinopathy of prematurity, Increased cup-to-disc ratio, Optic di... ORPHA:447788
Infantile Refsum Disease
Ataxia, Facial palsy, Optic atrophy, Rod-cone dystrophy, Spasticity ORPHA:772
Rett Syndrome
Inability to walk, Limb apraxia, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... ORPHA:778
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Facial diplegia, Spastic paraparesis, Difficulty walking, Abnormal pyramidal s... ORPHA:254930
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Filippi Syndrome
Dystonia, Optic atrophy OMIM:272440
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Gait disturbance, Optic atrophy ORPHA:272
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Cortical myoclonus, Gait disturbance, Ataxia, Retinal degeneration, Myoclonus,... ORPHA:168491
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypertonia, Optic atrophy ORPHA:1495
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Optic atrophy, Retinal dystrophy ORPHA:49827
Leukodystrophy, Progressive, Early Childhood-Onset
Dystonia, Optic disc pallor, Spasticity OMIM:617762
Hypervitaminosis A, Susceptibility To
Papilledema OMIM:240150
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Optic disc pallor, Spasticity OMIM:619170
Shukla-Vernon Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Broad-based gait OMIM:301029
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Stereotypy ORPHA:228384
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Clumsiness, Progressive gait ataxia, Decreased nerve conduction velocity, Decerebrate r... ORPHA:309263
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor... OMIM:236792
Lissencephaly 5
Spastic paraplegia, Optic atrophy OMIM:615191
Multiple Carboxylase Deficiency
Lethargy, Spastic paraparesis, Ataxia, Optic atrophy ORPHA:148
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy OMIM:248000
Juvenile Sialidosis Type 2
Loss of ability to walk, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria, Optic atrophy, Cher... ORPHA:93399
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Spasticity OMIM:618253
Peroxisomal Acyl-Coa Oxidase Deficiency
Gait disturbance, Hypertonia, Optic atrophy ORPHA:2971
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Choreoathetosis, Optic atrophy ORPHA:79312
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies