Gene Summary

Name:
chloride channel, voltage-sensitive 3
Synonyms:
Clc3

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.

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 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)
Cerebral cortex 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)
Hypothalamus 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)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
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)
Pituitary gland 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)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.2% (6 of 500)
ear 0.2% (1 of 492)
embryo 0.4% (2 of 495)
eye 0.2% (1 of 491)
footplate 0.2% (1 of 496)
forebrain 0.2% (1 of 497)
forelimb 0.2% (1 of 494)
handplate 0.2% (1 of 491)
head 1.02% (5 of 492)
heart 0.2% (1 of 501)
hindbrain 1% (5 of 498)
hindlimb 0.2% (1 of 488)
liver 0.21% (1 of 479)
lung 0.21% (1 of 482)
mandibular process 0.2% (1 of 494)
maxillary process 0.2% (1 of 498)
midbrain 0.2% (1 of 493)
oral cavity 0.2% (1 of 491)
skin 0.2% (1 of 489)
tail 0.2% (1 of 491)
tail somite group 0.2% (1 of 491)

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

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Human diseases caused by Clcn3 mutations

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

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

The table below shows human diseases associated to Clcn3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Failure to thrive, Hydrocephalus, Aqueductal stenosis, Tonic seizure, Hypoplast... OMIM:619512
Non-Specific Syndromic Intellectual Disability
Decreased body weight, Frontal cortical atrophy, Papilledema, Panic attack, Visual impairment, Sp... ORPHA:528084
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Tonic seizure, Retinal pigment epithelial mottling, Myoclonic seizure, Partial agenesis of the co... OMIM:619517

The table below shows human diseases predicted to be associated to Clcn3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity, Scoliosis, Amblyopia, Chorioretinal degeneration OMIM:616311
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... ORPHA:75377
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Optic atrophy, Tremor, Spasticity, Limb dystonia, Emotional lability, Retinopathy, Abnorm... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Cerebral atro... OMIM:204200
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Mental deterioration, Retinopathy, Pigmentary retinopathy, Neurodegener... OMIM:610951
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... ORPHA:41751
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Hypertonia, Loss of ambulation, Atrophy/Degeneration involving the cau... ORPHA:225154
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Macular degeneration, Cerebral atrophy, Myoclonus, Optic atrophy, P... OMIM:256730
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... OMIM:614322
Foxg1 Syndrome
Status epilepticus, Motor stereotypy, Kyphoscoliosis, Decreased body weight, Inability to walk, S... ORPHA:561854
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Tip-toe gait, Ment... OMIM:604360
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Failure to thrive, Ataxia, Inability to walk, Cerebral atrophy, Infantile spa... OMIM:619701
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Retinal degeneration, Myoclonus, Increased extraneuronal autofluorescen... OMIM:204500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract... OMIM:551500
Bothnia Retinal Dystrophy
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... ORPHA:85128
Immunodeficiency 66
Sepsis, Defective T cell proliferation OMIM:618847
Choroideremia
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... OMIM:303100
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Gliosis, Atonic seizure, Myoclonus, Epileptic spasm, Hem... ORPHA:99802
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... OMIM:600138
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... OMIM:616170
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment OMIM:600110
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Retinal degeneration, Dysmetria, Dysdiadochokinesis, Myoclonus, Motor deterio... OMIM:256731
Immunodeficiency 102
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:301082
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... OMIM:616152
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... ORPHA:90050
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia, Hepatomegaly, Cherry red spot of the macula, Blindness ORPHA:796
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... OMIM:608051
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affectin... OMIM:617862
Retinitis Pigmentosa 27
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... OMIM:613750
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, R... ORPHA:644
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Chore... ORPHA:282166
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Reticular Dysgenesis
Leukopenia, Sepsis, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Rec... ORPHA:33355
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Cerebral atrophy, Flexion contracture, Scoliosis, Difficulty... OMIM:617393
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Motor deterioration, Retinal degeneration, Increased neuronal autofluore... OMIM:601780
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance, Bilateral toni... ORPHA:275864
Maternal Uniparental Disomy Of Chromosome 9
Failure to thrive, Kyphoscoliosis, Short neck, Abnormal vertebral morphology, Retinal dysplasia, ... ORPHA:96183
Bardet-Biedl Syndrome 21
Blindness, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypopla... OMIM:617406
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Brain atrophy, Chorea, Tremor, Spasticity, Unsteady gait, Progressive visual field defect... ORPHA:79263
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Macular atrophy, Visual imp... OMIM:603649
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... OMIM:136550
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Scoliosis, Attenuation ... OMIM:616394
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Neuronal loss in central nervous system, Limb at... OMIM:607136
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Retinal degeneration, Mental deterioration, Spasticity, Hyperactivity,... ORPHA:168491
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... OMIM:153700
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Babinski s... ORPHA:204
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... OMIM:221820
Morm Syndrome
Hyperactivity, Truncal obesity, Retinal dystrophy, Retinal atrophy, Aggressive behavior, Progress... ORPHA:75858
Persistent Placoid Maculopathy
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... ORPHA:97341
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Cognitive impairment, Rod-cone dystrophy, Tip-toe gait, Pigmenta... ORPHA:216866
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy OMIM:617781
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Retinitis Pigmentosa 29
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Macular degeneration, Agenesis of corpus callosum, Generalized myoclonic seizure ORPHA:85334
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Emotional lability, Loss of ambulation, Anxiety, Parkins... ORPHA:79264
Mucolipidosis Iv
Photophobia, Dysplastic corpus callosum, Retinal degeneration, Babinski sign, Progressive neurolo... OMIM:252650
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ... ORPHA:231154
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Progressive visual loss, Macular scar, Drusen OMIM:615439
Episodic Ataxia, Type 1
Blurred vision, Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... OMIM:608850
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral tonic-clonic seizure, Increased neu... OMIM:162350
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Short stature, Scoliosis, Reti... ORPHA:464282
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Macular degeneration, Mental deterioration, Babinski si... OMIM:164500
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Increased circulating antibody level, Lymphopenia, Lymphocytosis, I... ORPHA:169154
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Visual impairment OMIM:617830
You-Hoover-Fong Syndrome
Kyphoscoliosis, Ataxia, Cerebral visual impairment OMIM:616954
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Neuronal loss in central nervous system, Gliosis, Generalized myoclonic seizure, Flex... OMIM:614498
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Mental deterioration, Tremor, Difficulty walking, Emotional lability, Lower l... ORPHA:206443
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... OMIM:143100
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Ataxia, Ventriculomegaly, Seizure, Abnormal vertebral morphology OMIM:618709
Spastic Paraplegia 55, Autosomal Recessive
Cognitive impairment, Reduced visual acuity, Babinski sign, Distal sensory impairment, Spastic pa... OMIM:615035
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Lumbar hyperlordosis, Inability to walk, Cerebral atrophy, Ge... OMIM:616756
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... OMIM:204100
Huntington Disease-Like 1
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Cerebral cortical atr... ORPHA:157941
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Inguinal hernia, Short stature, Truncal ataxia, Unsteady... OMIM:614063
Retinitis Pigmentosa 30
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... OMIM:607921
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Recurrent bacterial skin ... ORPHA:276
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... OMIM:604393
Developmental And Epileptic Encephalopathy 14
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, ... OMIM:614959
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Retinal Capillary Malformation
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... ORPHA:71213
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... ORPHA:100070
Mohr-Tranebjaerg Syndrome
Inability to walk, Mental deterioration, Babinski sign, Optic atrophy, Tremor, Abnormality of som... ORPHA:52368
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Gait disturbance, Seizure, Upper limb spa... OMIM:611225
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Bilateral tonic-clonic seizure, Gait ataxia, Cerebellar atrophy, Seizure, Growth ... ORPHA:488635
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Blindness, Spasticity, Severely reduced visual acuity OMIM:309555
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, ... OMIM:616981
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610189
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Cognitive impairment, Reduced visual acuity, Abnormal pyramidal sign, Incoordination, Opt... OMIM:614947
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epi... OMIM:312700
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Chorea, Generalize... ORPHA:178469
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
Retinitis Pigmentosa 76
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:617123
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... OMIM:619317
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Gliosis, Inability to walk, Cerebral atrophy, Flexion contracture, Cerebellar gliosis, Sm... ORPHA:79243
Retinitis Pigmentosa 48
Rod-cone dystrophy, Visual impairment, Macular degeneration OMIM:613827
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Kyphoscoliosis, Small for gestational age OMIM:212540
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Retinal degeneration, Brain atrophy, Cerebral atrophy, Mental deterior... ORPHA:442835
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity, Visua... OMIM:610156
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Scoliosis, Myoclonic status epilepticus, T... OMIM:614018
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Impaired vibration sensation in the lower l... OMIM:609033
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... OMIM:611040
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic atrophy, Tremor, Optic disc pallor, Scotoma, Abnormality of extrapyr... OMIM:165300
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... ORPHA:827
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Specific Granule Deficiency 2
Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneumonia, Neutropenia,... OMIM:617475
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration, Visual impairment OMIM:618513
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Blindness, Bradykinesia, Dysmetria, Progressive visual loss, Truncal ataxia, Hemiparesis,... OMIM:601338
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Limb ataxia, Dysmetria, Short stature, Tremor, Gait ataxia, Spasticity, Unsteady... OMIM:213200
Retinoschisis Of Fovea
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... OMIM:268080
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... OMIM:619382
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Kyphoscoliosis, Gliosis, Joint contracture of the hand, Flexion contracture, S... OMIM:214150
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebral palsy, Babinski sign, Spastic paraplegia, Ventriculomegaly, Spastic tetraplegia... OMIM:612936
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Lissencephaly 4
Hypertonia, Short stature, Babinski sign, Seizure, Growth delay, Colpocephaly, Agenesis of corpus... OMIM:614019
Macular Degeneration, Early-Onset
Reduced visual acuity, Choroidal neovascularization, Macular degeneration OMIM:616118
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Visual field defect, Choroideremia, Color vision defect, Metamorpho... ORPHA:1243
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis, Small for gestational age OMIM:300844
Congenital Neuronal Ceroid Lipofuscinosis
Status epilepticus, Gliosis, Myoclonic seizure, Abnormal astrocyte morphology, Ventriculomegaly, ... ORPHA:168486
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Mental deterioration, Retinal flecks, Optic atrophy, Tics, Spasticity, Limb... ORPHA:157850
Cone-Rod Dystrophy 12
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... OMIM:612657
Leukoencephalopathy With Vanishing White Matter
Gliosis, Primary amenorrhea, Optic atrophy, Gait disturbance, Secondary amenorrhea, Spasticity, U... OMIM:603896
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... OMIM:204300
Isolated Agammaglobulinemia
Sepsis, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocytopenia, Rec... ORPHA:229717
Retinal Cone Dystrophy 1
Photophobia, Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visu... OMIM:180020
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180100
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness OMIM:613731
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Small for gestational age, Short stature, Bilat... OMIM:245570
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Failure to thrive, Myoclonus, Optic atrophy, Bilateral tonic-clonic seizure, ... OMIM:609056
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:618369
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Retinal degeneration, Macular deg... ORPHA:99
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Retinal degeneration, Progressive neurologic deterioration, Visual los... OMIM:300438
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Visual loss, Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Gait disturbance OMIM:300660
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... ORPHA:49382
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... ORPHA:79262
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Color vision defect, Dysdiadochokinesis, B... ORPHA:98890
Retinitis Pigmentosa 90
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:619007
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Mohr-Tranebjaerg Syndrome
Photophobia, Constriction of peripheral visual field, Mental deterioration, Reduced visual acuity... OMIM:304700
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis ORPHA:36237
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper motor neuro... OMIM:221770
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Myoclonus, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... OMIM:614946
Retinitis Pigmentosa 78
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... OMIM:617433
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Retinitis Pigmentosa 38
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... OMIM:613862
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Focal motor seizure, Ataxia, Astrocytosis, Photosensitive myoclonic seizure, Diabetes mellitus, S... OMIM:172500
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Ataxia, Decreased body weight, Cerebral cortical atrophy, Retinal dystrophy, A... OMIM:614559
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Nyctalopia... ORPHA:99947
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness, Blindness OMIM:610444
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Optic atrophy, Tremor, Bilateral... OMIM:617810
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Blindness OMIM:613830
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration, Seizure OMIM:238340
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Nyctalopia, Cirrhosis, Biliary tract abnormality,... ORPHA:79301
Leber Congenital Amaurosis 1
Photophobia, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Pigmentary ... OMIM:204000
Peripheral Cone Dystrophy
Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Optic atrophy, Opt... OMIM:609021
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Nyctalopia, Dysm... ORPHA:96
Leber Congenital Amaurosis 13
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... OMIM:612712
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis, Flexion contracture, Optic atrophy, Bilateral tonic-clonic seizure, ... OMIM:618237
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Infantile spasms, Myoclonic seizure, Partial agenesis of the corpus ca... OMIM:619302
Retinitis Pigmentosa 35
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Sp... OMIM:619470
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment OMIM:607476
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Distal sensory impairment, Optic atrophy, Optic disc pallor, Difficulty walking OMIM:617087
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Inability to walk, Astrocytosis, Difficulty walking, Ventriculomegaly, Seizure OMIM:611087
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Focal motor status epilepticus, Poor coordination, Chorea, Falls, Ventr... OMIM:619150
Retinitis Pigmentosa 54
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... OMIM:613428
Roussy-Lévy Syndrome
Kyphoscoliosis, Limb ataxia, Impaired vibratory sensation, Scoliosis, Somatic sensory dysfunction... ORPHA:3115
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Developmental And Epileptic Encephalopathy 97
Inability to walk, Stereotypical hand wringing, Epileptic spasm, Tremor, Ventriculomegaly, Seizure OMIM:619561
Retinitis Pigmentosa 2
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... OMIM:312600
Retinitis Pigmentosa 47
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Leber Congenital Amaurosis With Early-Onset Deafness
Reduced visual acuity, High hypermetropia, Retinal degeneration OMIM:617879
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... ORPHA:180
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Frontal cortical atrophy, Retinal degeneration, Mental de... ORPHA:2822
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Rigidity, Optic atrophy, Spasticity OMIM:616211
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Retinitis Pigmentosa 20
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... OMIM:613794
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Paresthesia ORPHA:101081
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media OMIM:266265
Retinitis Pigmentosa 7
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... OMIM:608133
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Ba... ORPHA:93952
Lymphoproliferative Syndrome 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, Decreased circulatin... OMIM:615122
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Reduced visual acuity, ... OMIM:270500
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance, Emotional lability, Blindness, Dementia OMIM:607674
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... ORPHA:208447
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Mental det... OMIM:610127
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Cognitive impairment, Reduced visual acuity, Babinski sign, Chorea, Optic atrophy, Spasti... OMIM:258501
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Flynn-Aird Syndrome
Kyphoscoliosis, Ataxia, Rod-cone dystrophy, Myopia OMIM:136300
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... OMIM:616100
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Progressive cerebellar ataxia, Focal impaired awareness seizure, Ingui... ORPHA:485350
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic tetraple... OMIM:619301
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Short stature OMIM:619639
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Ataxia, Scoliosis, Visual loss, Optic atrophy, Dysphagia OMIM:614707
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... OMIM:616079
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Myoclonus, Spasticity, Seizure, Congenital contracture OMIM:225753
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... ORPHA:275872
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Rigidity, Optic atr... ORPHA:33445
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebral atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, C... OMIM:610003
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Focal impaired awareness seizure, Astrocytosis OMIM:607341
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, High palate, Kyphoscoliosis, Cleft palate, Scoliosis, Truncal obes... OMIM:618363
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... OMIM:600059
Retinitis Pigmentosa 3
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... OMIM:300029
Retinitis Pigmentosa 18
Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia... OMIM:601414
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... ORPHA:36387
Wagner Vitreoretinopathy
Visual field defect, Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chori... OMIM:143200
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Krabbe Disease
Hypertonia, Failure to thrive, Abnormal flash visual evoked potentials, Decreased nerve conductio... OMIM:245200
Severe Canavan Disease
Inability to walk, Decerebrate rigidity, Babinski sign, Optic atrophy, Spasticity, Blindness, Irr... ORPHA:314911
Retinitis Pigmentosa 61
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... OMIM:614180
Retinitis Pigmentosa 31
Visual field defect, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment ep... OMIM:609923
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Episo... OMIM:618924
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Lateral ventricle dilatation, Bilat... ORPHA:101071
Retinitis Pigmentosa 50
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... OMIM:613194
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Cerebral atrophy, Flexion contracture, Scoliosis, Stereotypical hand wringing,... ORPHA:500545
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal sensory impairment, Macular degeneration OMIM:619764
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Inability to walk, Cerebral atrophy, Tonic seizure, Stereotypic... OMIM:618917
Bardet-Biedl Syndrome 16
Obesity, Retinal degeneration, Rod-cone dystrophy, Cognitive impairment OMIM:615993
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Small for gestational age, Short stature, Increased body mass index, Hyperkinetic moveme... OMIM:300957
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Bilateral tonic-clo... OMIM:613608
Nephronophthisis 15
Obesity, Blindness, Retinal degeneration, Hepatic failure OMIM:614845
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex OMIM:615127
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Visual impairment OMIM:617977
Diastrophic Dysplasia
Kyphoscoliosis, Lumbar hyperlordosis, Cleft palate, Small for gestational age, Scoliosis, Cervica... OMIM:222600
Optic Atrophy 1
Centrocecal scotoma, Ataxia, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked po... OMIM:165500
Alg13-Cdg
Decreased body weight, Clumsiness, Infantile spasms, Abnormal lateral ventricle morphology, Globa... ORPHA:324422
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... OMIM:600852
Liberfarb Syndrome
Retinal degeneration, Short stature, Retinal pigment epithelial mottling, Scoliosis, Optic disc p... OMIM:618889
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy OMIM:616502
Spastic Paraplegia 15, Autosomal Recessive
Ataxia, Retinal degeneration, Macular degeneration, Emotional lability, Reduced visual acuity, Ba... OMIM:270700
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Growth delay, Ataxia, Gliosis, Cataplexy, Neuronal loss in central nervous system, Inability to w... OMIM:617193
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Chorea, Bilateral tonic-clonic s... OMIM:616139
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure OMIM:618425
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Kyphoscoliosis, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:614727
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta... OMIM:619977
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Kyphoscoliosis, Visual impairment OMIM:260600
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, C... ORPHA:2590
Cone Rod Dystrophy
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment ORPHA:1872
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Giant somatosensory evoked potentials, Tremor, Bilateral tonic-clo... OMIM:601068
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Clumsiness, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:1947
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity OMIM:611105
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Head tremor, Truncal ataxia, Difficulty walking, Type I diabetes mellitus, Unsteady ... ORPHA:412057
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Difficulty walking, Bilateral tonic-clonic seizure, Spasticity, Seizure ORPHA:101685
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Optic atrophy, Gait disturbance... OMIM:210000
Ck Syndrome
Slender build, High palate, Kyphoscoliosis, Lumbar hyperlordosis, Hyperactivity ORPHA:251383
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Gliosis, Short stature, Hyperkinetic movements, Gait disturbance, Tremor, Bilat... ORPHA:457240
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Distal sensory imp... OMIM:604218
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Transient unilateral blurring of vision, Anxiety, Hemiparesis, Tremor, Cerebe... OMIM:141500
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Hydrocephalus, Clonic seizure, Generalized myoclonic seizure, Bilateral tonic... OMIM:266100
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Distal sensory impairment OMIM:616668
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... OMIM:612840
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Dementia OMIM:615889
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Infantile spasms, Bilateral tonic-clonic seiz... ORPHA:250972
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Short stature, Seizure OMIM:300271
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Congenital stationary night blindness, Visual impairment, Myopia OMIM:614565
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Ataxia OMIM:619099
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Usher Syndrome, Type Iv
Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of peripheral visual field, Retinal ... OMIM:618144
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... OMIM:616409
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Hypermetropia, Ataxia, Cognitive impairment, Retinal dystrophy, Head titubation, Amblyopia, Retin... ORPHA:370022
Immunodeficiency 68
Sepsis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Mental deterioration, Abnorm... ORPHA:35069
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Brain atrophy, Focal aware moto... ORPHA:3006
Ichthyosis--Cheek--Eyebrow Syndrome
High palate, Kyphoscoliosis OMIM:146720
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... OMIM:105550
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure... OMIM:619065
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... OMIM:613341
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis, Seizure OMIM:300518
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Cerebral atrophy, Myoclonus, Limb myoclonus, Optic atrophy, Febril... ORPHA:263516
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Masa Syndrome
Kyphosis, Hydrocephalus, Short stature, Hyperlordosis, Spastic paraplegia, Paraplegia, Shuffling ... OMIM:303350
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy OMIM:614494
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Loss of ambulation, Spastic paraparesis, Progressive psychomotor deterioration, Reduced v... ORPHA:3208
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Short stature, Bilateral tonic-clonic seizure, Contractures of the large joints, Cerebellar atrop... OMIM:608278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Sepsis, Neutropenia ORPHA:289916
Retinal Degeneration And Epilepsy
Retinal degeneration, Seizure OMIM:267740
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Mental deterioration, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atrophy, Cerebel... OMIM:615362
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Spasticity, Retinal degeneration OMIM:225755
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Short stature, Platyspondyly, S... OMIM:602271
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:615725
Wolfram-Like Syndrome, Autosomal Dominant
Reduced visual acuity, Anxiety, Optic atrophy, Optic disc pallor, Blind-spot enlargment, Severely... OMIM:614296
Achromatopsia 7
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... OMIM:616517
Retinitis Pigmentosa 9
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... OMIM:180104
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Spasticity, Cerebellar atrophy, Blindness, Dystonia OMIM:617899
Combined Oxidative Phosphorylation Deficiency 24
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Optic at... OMIM:616239
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic ... OMIM:618093
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Gliosis, Neuronal loss in central nervous system, Decreased nerve conduction velocity, Ce... OMIM:256600
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... ORPHA:306
Felty Syndrome
Splenomegaly, Sepsis, Recurrent urinary tract infections, Abnormal lymphocyte morphology, Recurre... ORPHA:47612
Chromosome Xq21 Deletion Syndrome
Choroideremia, Nyctalopia, Constriction of peripheral visual field, Chorioretinal atrophy, Obesit... OMIM:303110
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Atypical Rett Syndrome
Kyphosis, Loss of ambulation, Inability to walk, Generalized myoclonic seizure, Hand apraxia, Pil... ORPHA:3095
Retinitis Pigmentosa 89
Micronodular cirrhosis, Rod-cone dystrophy, Intrahepatic bile duct dilatation, Nyctalopia, Constr... OMIM:618955
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Clonic seizure, Spastic tetraplegia, Arthrogryposis multiplex conge... OMIM:615282
Cdkl5-Deficiency Disorder
Kyphosis, Generalized tonic seizure, Infantile spasms, Stereotypical hand wringing, Scoliosis, Ga... ORPHA:505652
Cerebral Sclerosis, Diffuse, Scholz Type
Spastic paraplegia, Blindness, Dementia OMIM:302700
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia, Rod-cone dystrophy OMIM:276902
Canavan Disease
Hypertonia, Abnormality of retinal pigmentation, Cognitive impairment, Abnormality of visual evok... ORPHA:141
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... ORPHA:100988
Lissencephaly, X-Linked, 1
Ataxia, Spasticity, Seizure, Postnatal growth retardation, Agenesis of corpus callosum OMIM:300067
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Gastroesophageal reflux, Cleft palate OMIM:612913
Cach Syndrome
Apathy, Optic neuritis, Cerebellar vermis atrophy, Cerebral atrophy, Dysmetria, Limb ataxia, Cogn... ORPHA:135
Developmental And Epileptic Encephalopathy 107
Motor stereotypy, Clonic seizure, Tonic seizure, Seizure OMIM:620033
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior, Cerebral atrophy, Optic atrophy, Cerebellar atrophy OMIM:619690
Hsd10 Disease, Infantile Type
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Poor coordination, Cerebral atrophy... ORPHA:391428
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Spa... OMIM:300983
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Tetr... OMIM:104290
Nanophthalmos 4
Reduced visual acuity, Visual impairment, Optic disc drusen OMIM:615972
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Rigidity, Falls, Bilateral tonic-clonic seizure, Gait ataxia, Ventriculomegaly, Unstea... OMIM:203740
Cln5 Disease
Ataxia, Poor gross motor coordination, Inability to walk, Mental deterioration, Truncal ataxia, T... ORPHA:228360
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... OMIM:618826
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly OMIM:616583
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Cerebral cortical atrophy, Dysmetria, Short stature, Intention tremor, Hypogona... ORPHA:48431
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia OMIM:616335
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Infantile spasms, Myoclonic seizure, Scoliosis, Enlarged sylvian cistern, Bi... OMIM:619616
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Back pain, Short neck, ... OMIM:271630
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia OMIM:614181
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615922
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... ORPHA:382
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... OMIM:267760
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Inability to walk, Focal hemiclonic seizure, Cerebral atrophy, Bilateral toni... OMIM:616645
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... OMIM:617460
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Reduced dihydropyrimidine dehydrogenase level, Hyperactivity, Optic atrophy, A... OMIM:274270
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Retinitis Pigmentosa 92
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... OMIM:619614
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Failure to thrive, Ataxia, Gliosis, Hypertonia, Neuronal loss in central nerv... OMIM:203700
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... OMIM:613464
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... ORPHA:443811
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Enterov... OMIM:300755
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity, Macular degeneration, Cone/cone-rod dystrophy, Macul... OMIM:610381
Mehmo Syndrome
Inability to walk, Small for gestational age, Babinski sign, Birth length less than 3rd percentil... OMIM:300148
Retinitis Pigmentosa 28
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... OMIM:606068
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Cerebral cortical atrophy, Short stature, Babinski sign, Spastic dysarthria, Di... ORPHA:280763
Oliver-Mcfarlane Syndrome
Severe short stature, Retinal degeneration, Small for gestational age, Hypogonadotropic hypogonad... OMIM:275400
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... OMIM:300476
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... OMIM:613670
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Reduced visual acuity, Scoliosis, Distal sensory impairment, Gait ... ORPHA:101111
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:133780
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Optic disc pallor, Central scoto... OMIM:616732
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Self-injurious behavior, Cerebral cortical atrophy, Involunt... OMIM:617820
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... OMIM:609425
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Brai... OMIM:619092
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Centrocecal scotoma, Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials, Tri... OMIM:125250
Warburg Micro Syndrome 1
Optic atrophy, Failure to thrive, Kyphoscoliosis, Agenesis of corpus callosum OMIM:600118
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... OMIM:616188
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:613721
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity OMIM:611543
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Generalized tonic seizure, Small for gestational age, Short stature, Myoclonus, Epile... ORPHA:289266
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Paralysis, Athetosis OMIM:300857
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Splenom... OMIM:614700
Leigh Syndrome
Failure to thrive, Ataxia, Gliosis, Pigmentary retinopathy, Optic atrophy, Spasticity, Seizure OMIM:256000
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Short stature, Rigidity, Tremor, Bilateral t... OMIM:617836