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Gene: Cnp MGI:88437

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Gene Summary

Name:
2',3'-cyclic nucleotide 3' phosphodiesterase
Synonyms:
Cnp-1,  CNPase,  Cnp1

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Cnptm1b(EUCOMM)Wtsi HOM Early adult 3.06×10-06
abnormal behavior Cnptm1b(EUCOMM)Wtsi HOM Early adult 3.14×10-06
decreased locomotor activity Cnptm1b(EUCOMM)Wtsi HOM Early adult 1.65×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 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 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 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)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 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)
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 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 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 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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.

Adult LacZ

LacZ Images Wholemount

8 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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Human diseases caused by Cnp 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 Cnp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Babinski sign, Hypertonia, Torticollis, Scoliosis, Spastic tetraplegia OMIM:619071

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil... ORPHA:98765
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Fasciculations, Axonal degeneration/regeneration, Distal sensory impairment, Axonal... OMIM:614436
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Falls, Failure to thrive, Foot dorsiflexor weakness, Axonal degeneration, ... OMIM:618811
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Seizure, Lower limb muscle weakness, Inability to walk, Ankle clonus, Babinsk... OMIM:611225
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... OMIM:604484
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Difficulty walking, Distal sensory impairment, Peripheral hypo... OMIM:605285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Seizure, Axonal... OMIM:618138
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, CNS hypomyelination, Basal lamina onion bulb formation, Decreased num... OMIM:214400
Posterior Column Ataxia
Impaired vibratory sensation, Scoliosis, Impaired proprioception, Ataxia OMIM:176250
Huntington Disease
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... OMIM:143100
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Muscle weakness, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment,... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Basal lamina onion bulb formation, Upper limb muscle weakness, Difficulty ... OMIM:601596
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis, Distal lower limb muscle weakness, Paresis of extensor muscles of ... OMIM:608634
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Seizure, Rigidity,... OMIM:221820
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Muscle weakness, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Spasticity, Focal autonomic seizure, Generalized tonic seizure, Clonus... OMIM:614959
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Sensory axonal neurop... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal... OMIM:617087
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclo... OMIM:607136
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Distal sensory impairment, Paralysis, Peripheral axonal neuropathy, Distal mu... OMIM:613710
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur... OMIM:602433
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropa... OMIM:615957
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Decrease... OMIM:605588
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis, Distal muscle weakness, Paresis of extensor muscles... OMIM:158590
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo... OMIM:213200
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:615490
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sen... ORPHA:101097
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Athetosis OMIM:300857
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Delayed CNS myelination, Cerebral atrophy OMIM:618875
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ... OMIM:617904
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Peripheral axonal neuropathy, CNS hypomyelination OMIM:619688
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Increased neuronal autofluorescent lipopigment, Seizure, Myoclonus, Abnormalit... OMIM:162350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Muscle weakness, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower mo... OMIM:105550
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Caudate... ORPHA:98934
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peri... OMIM:614895
Spastic Paraplegia 18A, Autosomal Dominant
Upper limb muscle weakness, Seizure, Lower limb muscle weakness, Paresthesia, Ankle clonus, Loss ... OMIM:620512
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Seizure, Proximal muscle weakness, Lower limb spasticity, Gait disturbance, Hyperlo... OMIM:617404
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function,... ORPHA:275872
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Neck muscle weakn... OMIM:613908
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Spasticity, Proximal muscle weakness in upper limbs, Dis... OMIM:616668
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L... OMIM:614018
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Seizure, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal mo... OMIM:604218
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Generalized myoclonic seizure, Cerebral atrophy, Seizure, Inability to walk, Lu... OMIM:616756
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... OMIM:616230
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral hypom... ORPHA:369939
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Paralysi... OMIM:105500
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:605021
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormali... OMIM:615362
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis, Seizure OMIM:300518
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Null Syndrome
Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy ORPHA:280234
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Seizure, Incoordination, Ch... ORPHA:157941
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Leukodystrophy, Cerebellar atrophy OMIM:616494
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Distal muscle weakness, Scoliosis, Kyp... ORPHA:101078
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Foot dorsiflexor weakness, Distal sensory impairment, Loss of a... OMIM:618124
Episodic Ataxia, Type 8
Episodic ataxia, Ataxia, Intention tremor, Muscle weakness, Slurred speech OMIM:616055
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Seizure, My... OMIM:600143
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:607208
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Seizure, Impaired vibration sensation in the lower limbs, Positive Romberg si... ORPHA:88628
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Foot dorsiflexor weakness, Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic paral... OMIM:620011
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, G... OMIM:612437
X-Linked Progressive Cerebellar Ataxia
Frequent falls, Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Foot dorsifl... ORPHA:1175
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Status epilept... OMIM:204300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Neck muscle weakness, Limb ataxia... ORPHA:276193
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Inability to walk, Infantile spas... OMIM:619701
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... ORPHA:99947
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Delayed CNS myelination OMIM:618185
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Decreased numb... OMIM:118210
Hemimegalencephaly
Optic atrophy, Seizure, Oculomotor nerve palsy, Epileptic spasm, Myoclonus, Hemiparesis, Gliosis,... ORPHA:99802
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Foot dorsiflexor weakness, Peripheral axo... OMIM:617207
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Atrophy/Deg... OMIM:613477
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Tremor, Vocal cord paralysis, Distal muscle weakness OMIM:158580
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Proximal m... OMIM:301020
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Proximal muscle weakness in upper limbs, Seizure, Abolished vibration sense, Lower li... OMIM:620068
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Seizure, Action tremor, Rigidity, Babins... OMIM:300423
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait... ORPHA:248111
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Generalized musc... OMIM:256600
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Chorea, Peripheral demyelination, Kyphoscoliosis, Peripheral hypomyelination, B... OMIM:604168
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Global brain atrophy, Hyperkinetic movements, Bilateral tonic-clonic seizure... OMIM:613721
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Limb muscle weakness, Axonal degeneration/regeneration, Distal sensory... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Lower limb muscle weakness, Myoclonus, G... OMIM:607317
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis,... ORPHA:99014
Sandhoff Disease
Failure to thrive, Seizure, Ataxia, Kyphosis, Muscle weakness ORPHA:796
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Sensory axonal neuropathy, Lower limb muscle weakness, Difficulty walking, Ga... OMIM:616907
Nemaline Myopathy 7
Shoulder girdle muscle weakness, Lumbar hyperlordosis, Neck muscle weakness, Limb muscle weakness... OMIM:610687
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:615006
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Seizure, Abnormality of extrapyramidal m... OMIM:236792
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... OMIM:615400
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... ORPHA:225154
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ... OMIM:607641
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Failure to thrive, Limb muscle weakness, Axonal degeneration, Diaphragmatic weakness, Peripheral ... OMIM:604320
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebral hypomyelination, Cerebellar atrophy, Cerebral atrophy OMIM:300475
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spasm, Diffuse cerebral atrop... OMIM:616346
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Frontotemporal cerebral atrophy, CNS hypomyelination OMIM:618559
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Frequent falls, Myoclonus, Gait ataxia, Bilateral tonic-clonic sei... OMIM:616540
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Distal sensor... OMIM:180800
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Seizure, Peripheral demyelination, Myoclonus, Babinski sign, Apraxi... OMIM:221770
Oculopharyngodistal Myopathy
Vocal cord paresis, Proximal muscle weakness in upper limbs, Ophthalmoparesis, Distal upper limb ... ORPHA:98897
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Focal impaired awareness seizur... ORPHA:330050
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Congenital Disorder Of Glycosylation, Type Iaa
Cerebral cortical atrophy, Failure to thrive, Pseudobulbar paralysis, Appendicular spasticity, Bi... OMIM:617082
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal sensory impairment, Trem... OMIM:618387
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Quadriceps muscle weak... ORPHA:99948
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... OMIM:610357
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Leukodystrophy OMIM:616370
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Frequent falls, Inability to walk, Extrapyramidal muscular rigidity, Obesity,... ORPHA:93952
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Stat... ORPHA:71277
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Frequent fall... ORPHA:3115
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Diaminopentanuria
Neurodegeneration, Spasticity, Seizure, Ataxia OMIM:222350
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Clumsiness, Bilateral tonic-clonic seizure, Increased neuro... OMIM:610003
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy, Cerebellar atrophy OMIM:617560
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Tonic seizure, G... OMIM:618090
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Seizure, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness ORPHA:85317
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Gliosis, Hypertonia OMIM:225753
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, Inability t... OMIM:617672
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Hyperlordosis, Periodic paralysis OMIM:614198
Developmental Delay With Or Without Epilepsy
Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure, Generalized non-motor (absence... OMIM:620540
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Infantile spasms, Focal-onset seizure, Generalized t... ORPHA:505652
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Seizure, Slender build, Generalized muscle weakness, Progressive external ophthalmoplegia, Cachex... OMIM:613662
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Gait imbalance, Paresthesia, Distal sensory impairment, Kyphoscoliosi... ORPHA:101081
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Leukodystrophy OMIM:618866
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Focal impaired awareness seizure, Cerebral atrophy, Seizure, Cere... OMIM:617435
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia, Failure to thrive OMIM:612740
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Spasticity, Falls, Lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Pro... OMIM:617882
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, CNS hypomyelination, Leukodystrophy, Cerebellar atrophy ORPHA:527497
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Generalized myoclonic seizure, Focal myoclonic seizure, Progressive spastic paraplegi... ORPHA:464282
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Cerebral atrophy, Inabili... ORPHA:293181
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, At... ORPHA:363717
Spastic Paraplegia 86, Autosomal Recessive
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Inability to w... OMIM:619735
Huntington Disease
Involuntary movements, Degeneration of the striatum, Decreased body mass index, Cerebral atrophy,... ORPHA:399
Kaya-Barakat-Masson Syndrome
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy OMIM:619125
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Seizure, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Opt... OMIM:612936
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Generalized myoclonic seizure, Focal-onset seizure, Rigidity, Babinski sign, Clonu... OMIM:614498
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Impaired vibration se... OMIM:604187
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Peripheral axonal neuropathy, Tremor, Kyphoscoliosis OMIM:619099
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, External ophthalmoplegia, Cerebellar atrophy, Facial-li... OMIM:109150
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Seizure, Hemiparesis OMIM:613002
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Seizure, Gait disturbance, Gliosis, Unsteady gait OMIM:603896
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Proximal muscle weakness, Short neck, Hyperlordosis, Respiratory insufficiency du... OMIM:300718
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, My... OMIM:145900
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Cerebral atrophy, Generalized non-motor (absence) seiz... OMIM:618170
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Bilateral t... OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... OMIM:607682
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Failure to thrive, Seizure, Ophthalmoplegia, Gliosis, Ataxia OMIM:256000
Hereditary Methemoglobinemia
Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cerebral hypomyelination, Fr... ORPHA:621
Huppke-Brendel Syndrome
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy OMIM:614482
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)... OMIM:617810
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Seizure, Speech apraxia, Bilateral tonic-clonic seizure with focal ons... OMIM:245570
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Lower limb mu... OMIM:614487
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Inability to walk, Dys... OMIM:617954
Isaacs Syndrome
Weight loss, Muscle weakness, Distal sensory impairment, Fasciculations ORPHA:84142
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand paresthesia, Vocal cord paralysis, Hypoesthesia, Segmental peripheral demyelination/remyelin... OMIM:162500
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Ataxia, Eyeli... OMIM:616421
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Dystonic gait, Lower limb spasticity, G... ORPHA:280210
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Lower limb mu... ORPHA:313772
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Se... OMIM:256731
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Myoclonic seizure, Typical absence seizure, Failure to thrive, Gait atax... OMIM:620145
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Developmental And Epileptic Encephalopathy 63
Cerebral cortical atrophy, Myoclonic seizure, Cerebral palsy, Seizure, Inability to walk, General... OMIM:617976
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Cerebe... OMIM:620538
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Truncal obesity, ... OMIM:300957
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Optic atrophy, Cerebellar atrophy, Cataplexy, Seizure, Inability to walk, ... OMIM:617193
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis, Seizure ORPHA:2744
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination OMIM:620425
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impai... OMIM:118220
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Intellectual Developmental Disorder, X-Linked 111
Spasticity, Cerebral palsy, Hippocampal atrophy, Seizure, Kyphoscoliosis, Corpus callosum atrophy... OMIM:301107
Tay-Sachs Disease
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Global brain atrophy, I... ORPHA:845
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure OMIM:618425
Spastic Paraplegia 7, Autosomal Recessive
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... OMIM:607259
Episodic Ataxia, Type 5
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:613855
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Sensory axonal neuropathy, Cerebral atrophy, Leukodystrophy, Cerebral hypomyelinat... OMIM:608804
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakness, Axonal degeneration/... OMIM:620378
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait, Seizure OMIM:608636
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Focal myoclonic seizure, Pro... ORPHA:263516
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebellar vermis atrophy, CNS hypomyelination, Cerebral atrophy OMIM:615760
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Peripheral axonal neuropathy, Leukodystrophy OMIM:619196
Congenital Myopathy 23
Difficulty walking, Neck muscle weakness, Facial diplegia, Limb muscle weakness, Kyphoscoliosis, ... OMIM:609285
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Tip-toe gait, Lower ... OMIM:609195
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Global brain atrophy, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure... OMIM:609056
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Speech apraxia, Focal clonic seizure... ORPHA:725
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Foot... OMIM:619574
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Ophthalmoparesis, Cerebellar atrophy, Sensory axonal ne... ORPHA:88644
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, ... OMIM:137440
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Leukodystrophy OMIM:617951
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Gliosis, Hypertonia, Small for gestational age OMIM:615095
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Limb muscle weakness, Foot dorsiflexor weak... OMIM:118200
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Bilateral tonic-clonic seizur... ORPHA:457240
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Seizure, Abnormal cranial nerve morphology, Myoclonus, Tremor, Limb mu... ORPHA:97229
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
External ophthalmoplegia, Failure to thrive, Seizure, Gait ataxia, Cachexia, Weight loss, Status ... OMIM:612075
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Cerebral atrophy, Seizure, Inability to walk, Infantile spasms, Gliosi... ORPHA:79243
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body w... OMIM:614559
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed CNS myelina... OMIM:616811
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Seizure, Distal senso... OMIM:607250
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, External ophthalmoplegia, Cerebellar atrophy, Seizure, Difficu... OMIM:612319
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon... ORPHA:478029
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Pa... OMIM:168601
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Infantile spasms... OMIM:617493
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Scoliosis, Vocal cord paralysis ORPHA:640
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atyp... OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Seizure, Ataxia, Unsteady gait, Scoliosis, Kyphosis OMIM:300861
Developmental And Epileptic Encephalopathy 12
Spasticity, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613722
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy OMIM:607694
Developmental And Epileptic Encephalopathy 93
Optic atrophy, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy OMIM:618012
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, CNS hypomyelination OMIM:619328
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Neurodegeneration, Proximal muscle weakne... OMIM:616239
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca... OMIM:617106
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait OMIM:620317
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Limb dysmetria, Action tremo... ORPHA:98762
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Sensory axonal neuropathy, Inability to walk, Motor axonal neu... OMIM:609541
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Abnormal astrocyte morphology, Gliosi... ORPHA:168486
Familial Acute Necrotizing Encephalopathy
Spasticity, Seizure, Rigidity, Generalized muscle weakness, Gait disturbance, Gliosis, Hypertonia... ORPHA:88619
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Cerebral palsy, Cerebral atrophy, Seizure, Febrile seizure... OMIM:619847
Developmental And Epileptic Encephalopathy 71
Gliosis, Seizure OMIM:618328
Guanidinoacetate Methyltransferase Deficiency
Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Abnormality of extrapyramidal ... ORPHA:382
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Proximal muscle weakness, Opisthotonus, Parkin... ORPHA:300605
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia OMIM:104290
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Failure to thrive, Ataxia OMIM:620007
Isolated Succinate-Coq Reductase Deficiency
External ophthalmoplegia, Spasticity, Spastic paraparesis, Focal myoclonic seizure, Seizure, Gene... ORPHA:3208
Congenital Muscular Dystrophy Due To Lmna Mutation
Axial muscle weakness, Cachexia, Gait disturbance, Hyperlordosis, Poor head control, Spinal rigidity ORPHA:157973
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Seizure, Inability to walk, Chorea, Gait a... ORPHA:500180
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Seizure, Difficulty walking, Inability ... OMIM:611890
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, CNS hypomyelination OMIM:615281
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Muscle weakness, Axonal degeneration OMIM:162100
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Cerebral hypomyelination, Cerebellar atrophy, Leukodystrophy OMIM:612438
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Seizure, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis ORPHA:2429
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, S... OMIM:619065
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Generalized non-motor (a... ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor OMIM:615127
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Kyphoscoli... ORPHA:496689
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... ORPHA:53583
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of 3 mont... OMIM:618917
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cerebral atrophy, Seizure, Myoclonus, Abnormality of extrapyramidal motor function... OMIM:204200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Intention tremor, Dysmetria, Lower limb spasticity, Torticollis, Bilateral to... OMIM:620453
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Frontal cortical atrophy, Optic di... OMIM:618437
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis, Tetraplegia, Hypertonia, Spastic tetraplegia OMIM:608033
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:612736
Giant Axonal Neuropathy
Facial palsy, CNS hypomyelination, Diffuse axonal swelling ORPHA:643
Myopathy, Centronuclear, 2
Proximal muscle weakness, Axial muscle weakness, Ophthalmoplegia, Hyperlordosis, Respiratory insu... OMIM:255200
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, External ophthalmoplegia, Neck muscle weakness, Gait imbalance, Ankle clon... OMIM:211530
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Seizure, Myoclonus, Diffuse cerebral atrophy, Ataxia, Anterior beaking of lumbar v... OMIM:230650
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Clonus, Kyphosis, Impaire... ORPHA:319199
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Gliosis, Ataxia, Symm... OMIM:169500
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Failure to thrive in infancy, Cach... ORPHA:702
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Somatic sensory dysfunction, Inability to walk, Postural tremo... ORPHA:99950
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Cerebral atrophy, Seizure, Epileptic spasm, Tonic seizure, Bilater... OMIM:617711
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Cerebral atrophy, Seizure, Neurodegeneration, Chorea, Paralysis, Abnormal pyra... OMIM:272750
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, CNS hypomyelination OMIM:619908
Folinic Acid-Responsive Seizures
Optic atrophy, Frontotemporal cerebral atrophy, Cerebellar atrophy, Cerebral hypomyelination, Del... ORPHA:79097
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis OMIM:303350
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Facial diplegia, Cerebral atrophy OMIM:616286
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Kyphosis, Failure to thrive, Bilateral tonic-clonic seizure, S... OMIM:618237
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Cerebral atrophy, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hype... OMIM:618497
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Cerebral atrophy, Generalized non-motor (absence) s... OMIM:620537
Acute Peripheral Arterial Occlusion
Paralysis, Paresthesia, Limb muscle weakness, Impaired distal tactile sensation ORPHA:90064
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Abnormal form of the vertebral bodies, Seizure, Ophthalmoplegia, Hypertonia, Ataxi... ORPHA:2289
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Cerebral atrophy, Gait ataxia, Dysmetria, Short neck, Bilateral tonic-clonic ... OMIM:615031
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic atrophy, Lumbar hyperlordosis, Positive Romberg sign, Axonal degenerati... OMIM:601152
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar vermis atrophy... OMIM:614381
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Lennox-Gastaut Syndrome
Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,... ORPHA:2382
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Cerebral atrophy, Tetraparesis, Inability to walk, Epileptic spasm... OMIM:617105
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Somatic sensory dysfunction, Pseudobulbar paralysis, Hemiparesis, Kyphoscoliosis, Rig... ORPHA:199354
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, ... OMIM:616505
Primary Non-Essential Cutis Verticis Gyrata
Scoliosis, Gliosis, Seizure ORPHA:357225
Amyotrophic Lateral Sclerosis
Spasticity, Upper limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations, Neurodegen... ORPHA:803
Baralle-Macken Syndrome
Spasticity, Global brain atrophy, Inability to walk, Obesity, Focal-onset seizure, Kyphosis OMIM:619255
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal sensory impairment, Proximal muscle weakness, Decreased number of peripheral myelinated ne... OMIM:607831
Glioblastoma
Paralysis, Muscle weakness, Seizure, Glioblastoma multiforme ORPHA:360
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia OMIM:606438
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... ORPHA:289266
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Abnormality of extrapyramidal motor... ORPHA:276244
Charcot-Marie-Tooth Disease, Type 4B2
Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Kyphoscoliosis, Decreas... OMIM:604563
Kohlschutter-Tonz Syndrome
Spasticity, Myoclonic seizure, Seizure, Cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia,... OMIM:226750
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Broad-based gait, Global brain atrophy, Inability to walk, Infantile spasms, Bilateral tonic-clon... OMIM:618470
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Optic atrophy, Epilepsia partialis continua, Ophthalmoparesis, Cerebellar atrophy, Diffic... OMIM:620451
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Kyphosis, Waddling gait OMIM:618392
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Kyphosis, Seizure ORPHA:85288
Autosomal Recessive Spastic Paraplegia Type 35
Difficulty walking, Peripheral demyelination, Neck muscle weakness, Ophthalmoplegia, Spastic tetr... ORPHA:171629
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist... OMIM:617166
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Supranuclear ophthalmoplegia, ... ORPHA:683
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Pelizaeus-Merzbacher Disease
Optic atrophy, Global brain atrophy, CNS hypomyelination, Sudanophilic leukodystrophy, Cerebellar... OMIM:312080
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Peripheral demyelination, Kyphoscoliosis, Ataxia, Axonal loss OMIM:616684
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait OMIM:203740
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy OMIM:616420
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Optic disc pa... OMIM:619260
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy OMIM:619286
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu... ORPHA:561854
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cerebellar atrophy, Failure to thrive, Seizure, Neurodegeneration, Kyp... OMIM:214150
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... OMIM:617836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Tip-toe gait, Frequent falls, Difficulty walking, Shoulder girdle muscle weak... OMIM:606612
Charcot-Marie-Tooth Disease, Type 4D
Distal sensory impairment, Kyphoscoliosis, Proximal muscle weakness, Gait disturbance, Impaired d... OMIM:601455
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Episodic flaccid weakness, Respiratory paralysis, Paralysis, Late-o... ORPHA:681
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Sensory axonal neuropathy, Seizure, Limb dysmetria, Positive Romber... ORPHA:94125
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Chorea, Paresthesia, Intention tremor, Dysmetria, Peripheral hypomyeli... ORPHA:48431
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo... OMIM:608105
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Bethlem Myopathy 2
Scoliosis, Kyphosis, Muscle weakness, Proximal muscle weakness OMIM:616471
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Leukodystrophy OMIM:616859
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Epi... OMIM:619606
Allan-Herndon-Dudley Syndrome
Spasticity, Spastic tetraplegia, Small for gestational age, Decreased body mass index, Seizure, F... ORPHA:59
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki... OMIM:619911
Severe Canavan Disease
Optic atrophy, Spasticity, Seizure, Inability to walk, Babinski sign, Bilateral tonic-clonic seiz... ORPHA:314911
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Axonal degeneration, Babinski ... OMIM:278800
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Focal impaired awareness seizur... OMIM:117360
Brown-Vialetto-Van Laere Syndrome 2
Tongue fasciculations, Optic atrophy, Neck muscle weakness, Limb muscle weakness, Kyphoscoliosis,... OMIM:614707
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Seizure, Inability to walk, Opisthotonus, Gait disturbance, Weight loss... ORPHA:216866
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Upper limb spasticity, Generalized non-motor (absence) seizure, Seizur... ORPHA:485350
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... ORPHA:140927
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bila... ORPHA:352582
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Proximal muscle weakness, Hyperlordosis, Bilateral tonic-clonic seizu... ORPHA:369840
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb... ORPHA:86909
Cerebral Cavernous Malformations 3
Paralysis, Seizure OMIM:603285
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Seizure, Neurodegeneration, Chorea, Infantile spasms, Gait ataxia, Myoclonus, O... OMIM:618321
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Frequent falls, Difficulty walking, Shoulder girdle muscle weakness, Proximal muscl... OMIM:607155
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, CNS hypomyelination, Cerebral cortical atrophy, Leukodystrophy ORPHA:447896
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination, Cerebral atrophy OMIM:612164
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, CNS hypomyelination OMIM:616577
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si... ORPHA:909
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Failure to thrive, Muscle weakness, Inability to walk, Cerebella... OMIM:617988
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Cerebral atrophy, Febrile seizure (within the age range ... OMIM:614558
Combined Saposin Deficiency
Optic atrophy, CNS demyelination, Neuronal loss in central nervous system OMIM:611721
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
External ophthalmoplegia, Broad-based gait, Positive Romberg sign, Generalized muscle weakness, P... OMIM:607459
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, Bilateral tonic-clonic seizure, Torticollis, Brain atrophy OMIM:612621
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Pulmonary Blastoma
Weight loss ORPHA:64741
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Marinesco-Sjogren Syndrome
Spasticity, Cerebellar atrophy, Failure to thrive, Limb ataxia, Gait ataxia, Progressive muscle w... OMIM:248800
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Myoc... OMIM:614946
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetri... ORPHA:529665
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:619913
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Focal myoclonic seizure, Cerebral atrophy, Tetr... OMIM:203700
Lissencephaly 8
Optic atrophy, Cerebral hypomyelination OMIM:617255
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Cerebral cortical atrophy, Seizure, Chorea, Opisthotonus, Gliosis, Extrapyramidal ... OMIM:277470
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle weakness, Babinski s... OMIM:612020
Adrenomyeloneuropathy
Spasticity, Progressive spastic paraparesis, Dysesthesia, Distal sensory impairment, Axonal degen... ORPHA:139399
Flynn-Aird Syndrome
Cerebral cortical atrophy, Impaired pain sensation, Seizure, Cachexia, Ataxia, Scoliosis, Kyphosis ORPHA:2047
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Sarcosinemia
Optic atrophy, Tetraparesis, Peroneal muscle weakness, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Glutamine Deficiency, Congenital
CNS hypomyelination, Brain atrophy OMIM:610015
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Park... ORPHA:411602
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ... ORPHA:99956
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ophthal... ORPHA:98772
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Infantile spasms... OMIM:619616
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
4H Leukodystrophy
Optic atrophy, Cerebral hypomyelination, Cerebellar atrophy ORPHA:289494
Microcephaly-Capillary Malformation Syndrome
CNS hypomyelination, Optic atrophy, Delayed myelination, Cerebral atrophy OMIM:614261
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Hyperkinetic movements, Bil... OMIM:271980
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Primary Angiitis Of The Central Nervous System
Seizure, Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ... OMIM:619157
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy OMIM:619864
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy OMIM:619576
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Obesity, Kyphoscoliosis, Distal lower limb muscle weakness, Oculomot... ORPHA:459033
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination OMIM:620023
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Generalized-onset seizure, Gait ataxia, Ophthalmop... ORPHA:85278
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Hyperlordosis, Distal muscle weakness, Scoliosis, Kyphosis OMIM:600175
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Spastic paraplegia, Impaired vibrato... OMIM:615491
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination OMIM:616287
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy OMIM:614561
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Abnormality of extrapyramidal motor... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Abnormality of extrapyramidal motor... ORPHA:276241
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Developmental And Epileptic Encephalopathy 29
CNS hypomyelination, Cerebral atrophy OMIM:616339
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Progressive distal muscle weakness, Distal sensory impairment, Diaphragmatic we... OMIM:181405
Rett Syndrome
Cerebral cortical atrophy, Spasticity, Seizure, Gait ataxia, Cachexia, Gait apraxia, Truncal atax... OMIM:312750
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... ORPHA:101071
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Ophthalmoparesis, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia,... ORPHA:101
Adenylosuccinase Deficiency
Cerebral hypomyelination, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy OMIM:103050
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Seizure, Positive Romberg sign, Myoclonus, Dysmetria, Intention tremor, Babin... OMIM:301310
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination OMIM:613206
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Spinocerebellar Ataxia 23