Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Cnptm1b(EUCOMM)Wtsi HOM Early adult 2.96×10-06
decreased locomotor activity Cnptm1b(EUCOMM)Wtsi HOM Early adult 1.96×10-06
abnormal behavior Cnptm1b(EUCOMM)Wtsi HOM Early adult 2.96×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone 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)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas 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 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus 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.

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Adult LacZ

LacZ Images Wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

4 Images

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, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Scoliosis 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
Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn... OMIM:616155
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Segmental... OMIM:606482
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Distal muscle weakness, Axonal degeneration/regeneration, Impaire... OMIM:614436
Mitochondrial Dna Depletion Syndrome 18
Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneration, Falls, Tongue fasc... OMIM:618811
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... OMIM:604484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Neck flexor weakness, Kyphosis, Gowers si... OMIM:618138
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal muscle weakness, Paralysis, Decreased number of large peripheral myelinated nerve fibers, ... OMIM:605285
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Hypertrop... OMIM:214400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ... OMIM:143100
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis OMIM:176250
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Progressive external ophthalmoplegia, Cerebellar atrophy, Ataxia,... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Distal muscle weakness, Greater auricular nerve thickening, Facia... OMIM:601596
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Proximal muscle w... ORPHA:98856
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... OMIM:608634
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Seizu... OMIM:221820
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Muscle weakness, Ataxia OMIM:617709
Developmental And Epileptic Encephalopathy 14
Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epilepticus, Gliosis, S... OMIM:614959
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Respiratory insufficie... OMIM:617087
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Distal sensory impairment, Diffi... OMIM:613710
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... OMIM:615957
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Axonal degenerati... OMIM:605588
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak... OMIM:158590
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... OMIM:213200
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis OMIM:300857
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... OMIM:615490
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Developmental And Epileptic Encephalopathy 59
Poor head control, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inabi... OMIM:617904
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... ORPHA:90103
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
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Peripheral axonal degene... OMIM:607706
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired distal proprioception, Quadriceps muscle weakness, Axona... ORPHA:101097
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Peripheral axonal neuropathy, CNS hypomyelination OMIM:619688
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigm... OMIM:162350
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ... ORPHA:101112
Huntington Disease-Like 2
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Cere... ORPHA:98934
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,... OMIM:614895
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle wea... OMIM:617404
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Generalized muscle weakness, Abnormal pyramidal sign, Spastic tetrapl... OMIM:256600
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Seizure, Abnormality of extrapyramidal motor functio... OMIM:604218
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Postural tremor, Kyphoscol... OMIM:616668
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... OMIM:616230
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, CNS hypomyelination, Brain atrophy, C... ORPHA:369939
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Bulbar palsy, Amyotrophic lateral sclerosis, Parkinsonism... OMIM:105500
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Seizure, Scoliosis OMIM:300518
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Leukodystrophy, CNS hypomyelination OMIM:616494
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, ... OMIM:618124
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scol... ORPHA:101078
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Episodic ataxia, Muscle weakness, Intention tremor OMIM:616055
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Distal muscle weakness, Diaphragmatic paralysis, Axonal degeneratio... OMIM:620011
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo... ORPHA:88628
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Hemimegalencephaly
Epileptic spasm, Optic atrophy, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, S... ORPHA:99802
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Cerebellar vermis atrophy, Dysmetria, Clumsiness, Spastic dysarthri... ORPHA:1175
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizur... OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Distal musc... OMIM:118210
Periventricular Nodular Heterotopia 8
Delayed CNS myelination, Cerebellar vermis atrophy OMIM:618185
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Null Syndrome
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired temperature sensation, Quadriceps muscle weakness, Vocal cord paralysis, Hand tremor, St... ORPHA:99947
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Bulbar palsy, Broad-based gait, Hyperlordosis, Kyphosis, Go... OMIM:615290
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Atrophy/Degeneration affecting the bra... OMIM:613477
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Spastic tetraplegia, Sei... OMIM:617207
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Proximal muscle weakness, Unsteady ga... OMIM:301020
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Abolished vibration sense, Seizure, Axonal loss, Muscle ... OMIM:620068
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... OMIM:300423
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur... ORPHA:248111
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Chorea, Babinski sign, Axonal degeneratio... OMIM:604168
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Lower limb muscle weakne... OMIM:614409
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Axonal degenerati... OMIM:609260
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, ... ORPHA:99014
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Distal muscle weakness, Ataxia, Peripheral axonal neuropathy, Tr... OMIM:607317
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Gait ataxia, Distal ... OMIM:616907
Sandhoff Disease
Ataxia, Kyphosis, Seizure, Failure to thrive, Muscle weakness ORPHA:796
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Respiratory insufficiency due to muscle weak... OMIM:610687
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ... OMIM:607641
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Cerebral hypomyelination, Optic atrophy, Cerebral atrophy OMIM:300475
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, A... OMIM:617862
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Small for gestational age, Diaphragmatic ... OMIM:604320
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... OMIM:616346
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination OMIM:618559
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Upper limb postur... OMIM:180800
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Scoliosis, Generalize... OMIM:616540
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Cachexia, Tremor, Chore... OMIM:618093
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Axonal loss, Gait disturbance, Myoclon... OMIM:221770
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset... ORPHA:330050
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Ophthalmoplegia, Babinski sign, Limb ataxia, Dysmetria, Gait ata... ORPHA:276193
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to... OMIM:618090
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Optic disc pallor, Bilateral tonic-clonic seizure, Pseudobulbar paralysi... OMIM:617082
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Dysmetr... OMIM:618387
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... ORPHA:98897
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S... OMIM:610357
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Leukodystrophy OMIM:616370
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... ORPHA:71277
Diaminopentanuria
Neurodegeneration, Seizure, Spasticity, Ataxia OMIM:222350
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Chronic axonal neuropathy, Distal muscle weakness, Impaired dista... ORPHA:99948
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigmen... OMIM:610003
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... ORPHA:3115
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Leukodystrophy, CNS hypomyelination OMIM:617560
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Seizure, Gait disturbance, Scoliosis, Muscle weakness ORPHA:85317
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101075
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Gliosis, Myoclonus, Spasticity OMIM:225753
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Limb ataxia, Gait atax... OMIM:610743
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... OMIM:617435
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Porphyria, Acute Hepatic
Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, External ophthalmoplegia, Hyperlordosis, Fatigable weakness, Gait disturbance OMIM:614198
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Distal muscle weakness, Ataxia, Proximal muscle weakness, Gowers sign, Babinski si... OMIM:617882
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Weight loss,... OMIM:613662
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination OMIM:619125
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Seizure, Scoliosis, Pa... ORPHA:363717
Cdkl5-Deficiency Disorder
Poor head control, Infantile spasms, Impaired pain sensation, Focal-onset seizure, Kyphosis, Gait... ORPHA:505652
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Delayed peripheral ... ORPHA:464282
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia... OMIM:612936
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Seizure, Gliosis OMIM:613002
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis OMIM:619099
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, CNS hypomyelination ORPHA:527497
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Spastic Paraplegia 86, Autosomal Recessive
Distal muscle weakness, Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathet... OMIM:619735
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Ophthalmoplegia,... OMIM:618170
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:604187
Huntington Disease
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig... ORPHA:399
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculat... OMIM:109150
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,... OMIM:145900
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Seizure, Gait disturbance, Gliosis, Spasticity OMIM:603896
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... OMIM:300718
Huppke-Brendel Syndrome
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination OMIM:614482
Hereditary Methemoglobinemia
Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Cerebral hypomyelination, Fro... ORPHA:621
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... OMIM:616409
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Onion bulb formation, Ataxia, Bilateral tonic-clonic seizure,... OMIM:614487
Charcot-Marie-Tooth Disease Type 1A
Distal muscle weakness, Kyphoscoliosis, Distal sensory impairment, Sensory ataxia, Diaphragmatic ... ORPHA:101081
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Gen... OMIM:617810
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Bilateral tonic-clonic ... ORPHA:313772
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Basal ganglia gliosis, Global brain a... OMIM:603218
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Poor head control, Ataxia, Inability to walk, Dystonic gait, Titubation, G... ORPHA:280210
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Poor head control, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Seizu... OMIM:617954
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Isaacs Syndrome
Distal sensory impairment, Fasciculations, Muscle weakness, Weight loss ORPHA:84142
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Hypoesthesia, Vocal cord paralysis, Hand parest... OMIM:162500
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Seizure, Scoliosis, Short neck ORPHA:2744
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, S... OMIM:118220
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Seizure, Truncal obesity, Hyperkine... OMIM:300957
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Bilateral t... OMIM:617193
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Leigh Syndrome
Ataxia, Ophthalmoplegia, Optic atrophy, Seizure, Gliosis, Spasticity, Failure to thrive OMIM:256000
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Intellectual Developmental Disorder, X-Linked 111
Cerebral palsy, Kyphoscoliosis, Corpus callosum atrophy, Unsteady gait, Seizure, Hippocampal atro... OMIM:301107
Leukodystrophy, Hypomyelinating, 2
Facial palsy, Demyelinating motor neuropathy, Optic atrophy, Cerebral atrophy, Leukodystrophy, Ce... OMIM:608804
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia, Scoliosis ORPHA:640
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Poor ... OMIM:617976
Spastic Paraplegia 7, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Upper limb muscle weakne... OMIM:607259
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Unsteady gait, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:608636
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Limb muscle weakness, O... OMIM:620378
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Lower limb muscle weakn... ORPHA:845
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Peripheral axonal neuropathy, Leukodystrophy OMIM:619196
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... OMIM:618924
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Ce... ORPHA:263516
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Status epilepticus, Myoclonus, Fa... OMIM:609056
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy, CNS hypomyelination OMIM:615760
Riboflavin Transporter Deficiency
Optic disc pallor, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor, Seizure, Myoclonus, Limb... ORPHA:97229
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... OMIM:609195
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Kyphosis, Atroph... ORPHA:88644
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sen... OMIM:619574
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, CNS hypomyelination, Leukodystrophy OMIM:617951
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Gliosis, Spasticity OMIM:615095
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Lower limb spasticity, Proximal muscle weakness in upper limbs, Kyphoscoliosi... ORPHA:496689
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, D... OMIM:118200
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty... ORPHA:725
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hyperkinetic movements, Upper limb s... ORPHA:457240
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to... ORPHA:79243
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy, A... OMIM:614559
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, External ophthalmoplegia, Gait ataxia, Weight loss, Seizure, Status epilepticus, Failur... OMIM:612075
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Poor head control, Bilateral tonic-clonic seizure, Involuntary movements, Inf... OMIM:617493
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, External ophthalmoplegia... OMIM:612319
Atypical Rett Syndrome
Total ophthalmoplegia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, ... ORPHA:3095
Congenital Myopathy 23
Waddling gait, Kyphoscoliosis, Gowers sign, Facial diplegia, Neck muscle weakness, Difficulty wal... OMIM:609285
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Cerebellar atrophy, Decreased number of peripheral myelinated nerve... OMIM:607250
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis OMIM:260540
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity OMIM:613722
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Leukodystrophy, Cerebral cortical atrophy OMIM:607694
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, CNS hypomyelination OMIM:618012
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure, Spasticity OMIM:620317
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, CNS hypomyelination OMIM:619328
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... OMIM:616505
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Proximal muscle weakness, Optic atrophy, Seizure, Status epilepticus, Neurode... OMIM:616239
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Status epilepticus... ORPHA:168486
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Seizure, Scoliosis OMIM:300861
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Supranuclear ophthalmoplegia, Falls... ORPHA:683
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Poor coordination, Axonal degeneration, Neurode... ORPHA:478029
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... ORPHA:382
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis OMIM:104290
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis OMIM:618328
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Spasticity... OMIM:619847
Juvenile Amyotrophic Lateral Sclerosis
Neck flexor weakness, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... ORPHA:300605
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spas... OMIM:609541
Familial Acute Necrotizing Encephalopathy
Rigidity, Generalized muscle weakness, Spastic tetraplegia, Seizure, Hypertonia, Gait disturbance... ORPHA:88619
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations OMIM:620007
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Respiratory ins... OMIM:611890
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, CNS hypomyelination OMIM:615281
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigment, Inc... OMIM:204200
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Cachexia, Spinal rigidity, Hyperlordosis, Axial muscle weakness, Gait disturbance ORPHA:157973
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Cerebral hypomyelination, Optic atrophy, Leukodystrophy OMIM:612438
Isolated Succinate-Coq Reductase Deficiency
Poor head control, Ataxia, Spastic tetraparesis, Proximal muscle weakness, External ophthalmopleg... ORPHA:3208
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Muscle weakness OMIM:162100
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... ORPHA:500180
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Brown-Vialetto-Van Laere Syndrome 1
Bulbar palsy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Kyphosis,... OMIM:211530
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Seizure, Truncal obesity, Gait disturbance, Scoliosis, Spasticity ORPHA:2429
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Leukodystrophy OMIM:616859
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scol... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Distal muscle weakness, Impaired distal proprioception, Impaired distal vibra... OMIM:617633
Landau-Kleffner Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic sei... ORPHA:98818
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Optic atrophy, CNS hypomyelination, Frontal cortical atrophy, Cerebral cortica... OMIM:618437
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis, Scoliosis ORPHA:357225
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... OMIM:618917
Giant Axonal Neuropathy
Diffuse axonal swelling, Facial palsy, CNS hypomyelination ORPHA:643
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis OMIM:608033
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Myopathy, Centronuclear, 2
Waddling gait, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory insufficiency due... OMIM:255200
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Distal muscle weakness, Postural tremor, Kyphoscoliosis, Proximal mu... ORPHA:99950
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Seizure... ORPHA:702
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F... ORPHA:319199
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ... OMIM:169500
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, CNS hypomyelination OMIM:619908
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait OMIM:303350
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop... OMIM:618497
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Delayed myelination, Optic atrophy, Frontotemporal cerebral atrophy, Cerebral... ORPHA:79097
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis OMIM:616286
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Short neck, Spastic paraplegia, Dysmetria, Gait ataxia, Cerebral ... OMIM:615031
Neuronal Intranuclear Inclusion Disease
Ataxia, Ophthalmoplegia, Optic atrophy, Abnormal form of the vertebral bodies, Seizure, Hypertoni... ORPHA:2289
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Leukodystrophy, Cerebral hypomyelination,... OMIM:614381
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, Abnorma... OMIM:272750
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Kyphoscoliosis, Inability to walk, Babinski sign... OMIM:617105
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Kyphosis, Optic atrophy, Spastic tetraplegia,... OMIM:618237
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Distal muscle weakness, Lumbar hyperlordosis, Proximal muscle weakness, Optic ... OMIM:601152
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Baralle-Macken Syndrome
Focal-onset seizure, Kyphosis, Inability to walk, Obesity, Spasticity, Global brain atrophy OMIM:619255
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, P... OMIM:607831
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... OMIM:226750
Glioblastoma
Glioblastoma multiforme, Seizure, Muscle weakness, Paralysis ORPHA:360
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, S... OMIM:604563
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra... OMIM:618470
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ... ORPHA:48431
Severe Canavan Disease
Poor head control, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Optic atroph... ORPHA:314911
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor OMIM:606438
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Progressive external ophthalmoplegia, Cerebellar atrophy,... ORPHA:276244
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Spastic ataxia, Somatic sensory dysfunction, Diffuse cerebral atrophy, Bilateral tonic... ORPHA:199354
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior be... OMIM:230650
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Seizure, Small for gestational age ORPHA:85288
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Poor head control, Bilateral tonic-clonic seizure, Small for gestational age, Di... ORPHA:289266
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Ataxia, Facial palsy, Kyphoscoliosis, Optic atrophy, Clumsiness, Tongue fasciculati... OMIM:614707
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Foot dorsiflexor weakness, Ophthalmoplegia, Seizure, Neck muscle weakness, Oculomotor ... ORPHA:171629
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Foc... OMIM:617166
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls OMIM:203740
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Peripheral demyelination OMIM:616684
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Cerebellar vermis atrophy, Optic atrophy, C... OMIM:312080
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Cerebral cortical atrophy, Leukodystrophy, CNS hypomyelination OMIM:616420
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Kyphoscoliosis, Seizure,... OMIM:214150
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Ophthalmoplegia, Dysmetria, Seizure, Gait disturbance, Posi... ORPHA:94125
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Cerebral atrophy, CNS hypomyelina... OMIM:619260
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination OMIM:619286
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized myoclonic sei... OMIM:617836
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Kyphoscoliosis, Impaired distal proprioception, Proximal muscle weakness,... OMIM:601455
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor... OMIM:608105
Bethlem Myopathy 2
Kyphosis, Muscle weakness, Scoliosis, Proximal muscle weakness OMIM:616471
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity... OMIM:619911
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Kyphoscoliosis, Focal-onset seizure, Inability ... ORPHA:561854
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Proximal muscle weakness, Kyph... OMIM:606612
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Allan-Herndon-Dudley Syndrome
Poor head control, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in infanc... ORPHA:59
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Axonal degeneration, Optic a... OMIM:278800
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic... ORPHA:352582
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... ORPHA:140927
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination, Cerebral atrophy OMIM:612164
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Cerebral cortical atrophy, Leukodystrophy, CNS hypomyelination ORPHA:447896
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... ORPHA:86909
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Chorea, Ophthalmoplegia, Spastic tetraplegia, Cerebral atrophy, Gait at... OMIM:618321
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, CNS hypomyelination OMIM:616577
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Lissencephaly 8
Cerebral hypomyelination, Optic atrophy OMIM:617255
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Bilateral tonic-clonic seizure... OMIM:617988
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... ORPHA:485350
Combined Saposin Deficiency
CNS demyelination, Neuronal loss in central nervous system, Optic atrophy OMIM:611721
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Weight loss, Opisthotonus, Seizure, Tip-toe gait, Gait dist... ORPHA:216866
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired proprioception, Dysmetria, Loss of ambulation, Intention tremor, Impaired... OMIM:615491
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Glios... OMIM:614946
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Atrophy/Degenera... OMIM:607459
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Progressive muscle weakness, Limb ataxia, Gait ataxia, Scol... OMIM:248800
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Seizure, Brain atrophy, Myoclonic absence seizure OMIM:612621
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Poor head control, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic ... OMIM:619913
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormality of the vert... ORPHA:909
Pulmonary Blastoma
Weight loss ORPHA:64741
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Distal l... OMIM:612020
Pontocerebellar Hypoplasia, Type 2A
Chorea, Optic atrophy, Opisthotonus, Seizure, Gliosis, Extrapyramidal dyskinesia, Cerebral cortic... OMIM:277470
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract... ORPHA:139399
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Seizure, Scoliosis, Cerebral cortical atrophy ORPHA:2047
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... ORPHA:411602
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Sarcosinemia
Peroneal muscle weakness, Bilateral tonic-clonic seizure, Ataxia, Optic atrophy, Tetraparesis ORPHA:3129
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Fatigable weakness of bulbar muscles, Motor neuron atro... ORPHA:803
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Broad-based gait, Peroneal muscle weakness, Facial palsy, Progressive distal muscle ... OMIM:181405
Glutamine Deficiency, Congenital
Brain atrophy, CNS hypomyelination OMIM:610015
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Shoulder gird... OMIM:607155
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen... OMIM:203700
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Ophthalmoplegia, Poor coordination, Slurred speech,... ORPHA:98772
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination OMIM:620023
4H Leukodystrophy
Cerebellar atrophy, Cerebral hypomyelination, Optic atrophy ORPHA:289494
Microcephaly-Capillary Malformation Syndrome
Delayed myelination, Optic atrophy, Cerebral atrophy, CNS hypomyelination OMIM:614261
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Poor head control, Scoliosis, Spinal rigidity OMIM:618323
Hypokalemic Periodic Paralysis
Paralysis, Episodic flaccid weakness, Respiratory paralysis, Late-onset proximal muscle weakness,... ORPHA:681
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Pseudopapilledema, Tetraparesis ORPHA:140989
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy OMIM:619864
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal muscle weakness, Hyperlordosis, Kyphosis, Scoliosis, Distal lower limb muscle weakness OMIM:600175
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia... ORPHA:529665
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Christianson Syndrome
Cerebellar atrophy, Generalized-onset seizure, Cachexia, Ophthalmoplegia, Gait ataxia, Truncal at... ORPHA:85278
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... OMIM:271980
Adenylosuccinase Deficiency
Cerebellar atrophy, Cerebral hypomyelination, Cerebral atrophy, CNS hypomyelination OMIM:103050
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy OMIM:614561
Developmental And Epileptic Encephalopathy 29
Cerebral atrophy, CNS hypomyelination OMIM:616339
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Leukodystrophy, Cerebral cortical atrophy OMIM:619576
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment OMIM:616287
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Machado-Joseph Disease Type 1
Cerebellar atrophy, Progressive external ophthalmoplegia, Substantia nigra gliosis, Facial-lingua... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Progressive external ophthalmoplegia, Substantia nigra gliosis, Facial-lingua... ORPHA:276241
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Tremor, Inability to walk, Vocal cord pa... ORPHA:99956
Rett Syndrome
Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Seizure, Scoliosis, Truncal ataxia, Spasticity, Ce... OMIM:312750
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... ORPHA:101071
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A... ORPHA:98759
Spinocerebellar Ataxia 23
Cerebellar atrophy, CNS demyelination, Neuronal loss in central nervous system OMIM:610245
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Brain atrophy, CNS hypomyelination OMIM:615966
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination OMIM:613206
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137