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Gene: Plp1 MGI:97623

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
proteolipid protein (myelin) 1
Synonyms:
DM20,  Plp

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Plp1 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 predicted to be associated to Plp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation OMIM:212890
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Onion bulb formation, Peripheral demye... OMIM:620378
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... ORPHA:2932
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment OMIM:616039
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, L... OMIM:614561
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Glioma Susceptibility 1
Glioblastoma multiforme, Astrocytoma, Ependymoma OMIM:137800
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Severe demyelination of the white matter, Corpus callosum atrophy, Op... OMIM:236792
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Segmental per... OMIM:180800
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Axonal regenera... OMIM:615185
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai... OMIM:604484
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Onion bulb formation... OMIM:606483
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... OMIM:607677
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Focal impaired awareness seizure, Astrocytosis OMIM:607341
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607731
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spastici... ORPHA:225154
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Distal sensory impairment, Acute demyelinating polyneu... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Axonal loss, Neurodegeneration, Peripheral ... OMIM:617672
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Ataxia, Spastic tetraparesis, Cavitating leukodystrophy OMIM:619061
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... ORPHA:280234
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Gliosis, Neuronal loss in central nervous system OMIM:143100
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... OMIM:614895
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Babinski sign, Impaired distal vibration sensation, Hand tremor, Distal ... OMIM:618279
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... OMIM:610100
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Atonic seizure, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizur... OMIM:612437
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Abnormal c... ORPHA:101111
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Sei... OMIM:612736
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... OMIM:619742
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Decreased motor nerve cond... OMIM:609311
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral ... OMIM:208920
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor... ORPHA:101010
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Dysesthesia, Onion bulb formation, Gait ataxia ORPHA:98916
Mitochondrial Dna Depletion Syndrome 18
Clonus, Microcytic anemia, Axonal degeneration, Tongue fasciculations, Scoliosis, Failure to thrive OMIM:618811
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... OMIM:615376
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... OMIM:618912
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Choreoathetosis, Myoclo... ORPHA:726
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination, Kyphoscoliosis OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... OMIM:607706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty walking, Axonal ... OMIM:608323
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Hand paresthesia OMIM:162500
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity OMIM:616494
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Head titubation, Abnormal pyramidal sign, Truncal ataxia, Limb ataxia, CNS hypomyeli... OMIM:617560
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... OMIM:613641
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination ORPHA:401835
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelinati... OMIM:605285
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Paroxysmal dyskinesia OMIM:617080
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Axonal loss, Athetosis, Gliosis OMIM:300857
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Resting tremor, Cerebellar atrophy, Incoordination, Ataxia, Tremo... OMIM:615157
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... ORPHA:101097
Pelizaeus-Merzbacher Disease
Generalized dystonia, Reduction of oligodendroglia, Writer's cramp, Cerebral dysmyelination, Atax... OMIM:312080
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Gait ataxia, Seizure, CNS demyelination, Peripheral demyelin... OMIM:249900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Somatic sensory dysfunction, Demy... ORPHA:99939
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp... ORPHA:320370
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Myelin outfold... OMIM:118200
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... OMIM:613672
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia, Chronic axonal neuropathy OMIM:260970
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Cerebral atrophy, Axonal loss, Lateral ventricle dilatation, Gliosis, Gait distu... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Hyp... OMIM:609260
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis ORPHA:2815
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment OMIM:620111
Developmental And Epileptic Encephalopathy 74
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical... OMIM:618396
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction OMIM:612577
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401820
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i... ORPHA:99944
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Cerebellar hypopl... OMIM:213200
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S... OMIM:145900
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance ORPHA:99014
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:614959
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ... ORPHA:401830
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, S... OMIM:619301
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Distal sensory impairment, Segmental peripheral demyelinatio... OMIM:311070
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Chorea, Axonal degeneration, Babinski sig... OMIM:604168
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Delayed CNS myelination, Cerebral atrophy OMIM:618875
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Delayed myelination, Seizure, Myoclonus, Atypical ... OMIM:617391
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:302801
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, P... OMIM:619302
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Impaired vibration sensation in the lower lim... OMIM:610245
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... OMIM:617831
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Facial palsy, Demyelinating motor neuropathy, Rigidity, Head titubation, Babins... OMIM:608804
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Cerebellar hemisphere hypoplasia, ... OMIM:615095
Krabbe Disease
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Optic atrophy, Hypertonia, Neurodegenerati... OMIM:245200
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... ORPHA:99953
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Peripheral axonal neuropathy, CNS hypomyelination OMIM:619688
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity OMIM:613722
Spastic Paraplegia 44, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination,... OMIM:613206
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment OMIM:616155
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Corpus callosum atrophy, Gliosis, CNS demyelination, Neuronal loss i... OMIM:221820
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Impaired distal proprioception, Babinski sign, Optic atrophy, Impaired v... ORPHA:447896
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens... ORPHA:352675
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s... ORPHA:725
Developmental And Epileptic Encephalopathy 34
Delayed CNS myelination, Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizur... OMIM:616645
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:618184
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Ataxia OMIM:183050
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap... OMIM:612438
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... OMIM:169500
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Dysplastic corpus callosum, Seiz... OMIM:620317
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, CNS hypomyelination, Brain atrophy, C... ORPHA:369939
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, CNS hypomyelination, Pro... ORPHA:527497
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Lower limb spasticity, Ataxia, Babinski sign, Spastic diplegia, CNS hypomyelin... OMIM:615281
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Myoclonus, Dystonia OMIM:600795
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S... OMIM:610357
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, S... OMIM:300423
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
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
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy ORPHA:309169
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins... ORPHA:506353
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Limb ataxia... OMIM:607136
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus OMIM:617171
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Abnormal pyramidal sign, Leukodys... OMIM:616859
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le... OMIM:607694
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Seizure, Myo... OMIM:606777
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, CNS demyelination, Gliosis, Cerebral hypomyelination, Spasticity OMIM:603896
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Ina... ORPHA:99948
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy/... OMIM:619862
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Periventricular Nodular Heterotopia 8
Delayed CNS myelination, Cerebellar vermis atrophy OMIM:618185
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Broad-based gait, Impaired pain sensation, Decreased nerve conducti... ORPHA:435387
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Axonal degeneration, Neurodegeneration, Diffuse cerebellar... ORPHA:478029
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... OMIM:614322
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Macrogyria, Titubation, Gliosis, Abnormal myelination, Cerebral hy... ORPHA:280210
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys... ORPHA:53583
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Distal sensory impairment OMIM:604218
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis, Simplified gyral pattern OMIM:618328
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Rigidity, Focal hemiclonic seizure, Chorea, ... OMIM:616981
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Brain atrophy, ... OMIM:615284
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Atrophy/Degeneration affecting the bra... OMIM:613477
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
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, ... OMIM:614487
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Delayed myelination, Chorea, Cerebral atrophy, Cerebellar vermis atrophy OMIM:613811
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude, Difficulty walking OMIM:619112
Developmental And Epileptic Encephalopathy 78
Chorea, Cerebral palsy, Spasticity, CNS hypomyelination OMIM:618557
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Leukodystrophy, ... OMIM:610532
Leukodystrophy, Hypomyelinating, 15
Ataxia, Optic atrophy, Abnormal pyramidal sign, CNS hypomyelination, Athetosis, Leukodystrophy, D... OMIM:617951
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax... OMIM:614381
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal... OMIM:256600
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Abnormality of extrapyramidal... ORPHA:382
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-... ORPHA:36387
Lethal Congenital Contracture Syndrome 8
Neonatal death, Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis OMIM:616287
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 4
Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign... OMIM:607317
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Gait ataxia, Gliosis, Cerebral cortical atrophy OMIM:618369
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G... OMIM:605021
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:604563
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia, Status ep... ORPHA:71277
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased motor nerve conduction velocity, Decreased compound muscle action potenti... OMIM:619279
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Delayed myelination, Optic atrophy, Hemiparesis, Status epilepticus, Myoclonus, A... OMIM:615338
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Abnormal myelination, A... ORPHA:85179
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunct... ORPHA:101077
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Cerebral hypomyelination, Optic atrophy, Cerebral atrophy OMIM:300475
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment, Chronic axon... OMIM:606595
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... OMIM:617836
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination OMIM:618559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Axonal degeneration OMIM:618138
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Astrocytosis, Abnormality of extrapyramidal motor function, Fasci... ORPHA:275864
Developmental And Epileptic Encephalopathy 109
Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:620145
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... OMIM:607483
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Spinocerebellar Ataxia 25
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain... OMIM:608703
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto... OMIM:617854
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Developmental And Epileptic Encephalopathy 58
Delayed myelination, Optic atrophy, Spastic diplegia, Seizure, Status epilepticus OMIM:617830
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Diffuse demyel... ORPHA:168486
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Ataxia, Dysmyelinating leukodystrophy, Optic atrophy, Dysmetria, Dysdiadochok... OMIM:612319
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Frequent falls, Diaphragmatic paralysis OMIM:620011
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Status e... ORPHA:330050
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Developmental And Epileptic Encephalopathy 43
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... OMIM:612164
Developmental And Epileptic Encephalopathy 59
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Fo... OMIM:617904
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Leukodystrophy, Dystonia OMIM:619196
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Upper limb spas... OMIM:611225
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Photosens... ORPHA:86909
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Impaired d... OMIM:601455
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclon... OMIM:616409
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Leukodystrophy OMIM:616370
Autosomal Dominant Spastic Paraplegia Type 6
Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Babinski sign, Spastic pa... ORPHA:100988
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607831
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure... ORPHA:208441
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Normal pressure hydrocephalus, Gait disturbance, Tremor OMIM:611808
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Lissencephaly 3
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Agenesis of corpus callosum... OMIM:611603
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis OMIM:619099
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Clumsiness OMIM:610003
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... OMIM:616687
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
4H Leukodystrophy
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... ORPHA:289494
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Gait disturbance, Abnormality of peripheral nerve conduction, Di... ORPHA:101001
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Difficulty walking, Dist... OMIM:600361
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... ORPHA:101071
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P... ORPHA:101082
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Neurodevelopmental Disorder With Involuntary Movements
Delayed CNS myelination, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms,... OMIM:617493
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Inability to walk, Impaired distal vibration sensatio... ORPHA:276435
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne... OMIM:617770
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu... OMIM:607458
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Focal mo... OMIM:617711
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Gliosis, Cerebellar hypo... OMIM:225753
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait ataxia, Generali... OMIM:618090
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Diaphragmatic par... OMIM:604320
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Distal sensory impai... OMIM:616907
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S... OMIM:615643
Developmental And Epileptic Encephalopathy 86
Dystonia, CNS hypomyelination OMIM:618910
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Titubation, Athetosis, Abnormality of extr... ORPHA:280219
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:608636
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis ORPHA:140989
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action m... OMIM:616230
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Ch... OMIM:619725
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... OMIM:270550
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spast... ORPHA:313772
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Lissencephaly 8
Appendicular spasticity, Occipital encephalocele, Optic atrophy, Cerebral hypomyelination, Polymi... OMIM:617255
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Hereditary Methemoglobinemia
Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Cerebral hypomyel... ORPHA:621
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Chorea, Optic atrophy, Impaired proprioception, Dysmetria, Bradykinesia, Prog... ORPHA:98755
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... OMIM:610743
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Cerebral atrophy, EEG abno... ORPHA:457205
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, CNS hypomyelination ORPHA:320401
Porphyria, Acute Hepatic
Hemolytic anemia, Failure to thrive, Respiratory paralysis, Paralysis OMIM:612740
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinski sign, Dysmetria, G... OMIM:618093
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Abnormal pyrami... OMIM:616680
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Cerebral atrophy, Gait ataxia, Sensory ataxia, At... ORPHA:445062
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic a... OMIM:271245
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Ataxia, Clonus, Parkinsonism, Head titubation, Chorea, Spa... ORPHA:300605
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Giant Axonal Neuropathy
Facial palsy, Babinski sign, CNS hypomyelination, Distal sensory impairment, Diffuse axonal swell... ORPHA:643
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... ORPHA:31709
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Multiple Mitochondrial Dysfunctions Syndrome 5
Seizure, Delayed myelination, Leukodystrophy, Spasticity OMIM:617613
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... ORPHA:221091
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Gait ... OMIM:617810
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Babinski sign, CNS hypomyelination, Lower limb hypertonia, Upper limb hypertonia OMIM:619328
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Seizure, Dystonia... OMIM:250100
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Paralysis OMIM:613710
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination OMIM:619125
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para... ORPHA:444099
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Peripheral axonal neuropathy, A... OMIM:617225
Epilepsy, Progressive Myoclonic, 12
Ataxia, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure OMIM:619191
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Inability to walk, Unstea... ORPHA:99950
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Delayed CNS myelination, To... OMIM:619606
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... OMIM:300100
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Bilateral tonic-clonic seizure, Rigidity, Focal mo... OMIM:619911
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, S... OMIM:619701
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower limb hypertonia, Dystonia... ORPHA:438114
Adult Krabbe Disease
Broad-based gait, Somatic sensory dysfunction, Ataxia, Progressive spastic paraparesis, Hoffmann ... ORPHA:206448
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Folinic Acid-Responsive Seizures
Ataxia, Spastic tetraparesis, Delayed myelination, Chorea, Optic atrophy, Hypertonia, Dystonia, C... ORPHA:79097
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio... OMIM:159550
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Landau-Kleffner Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic sei... ORPHA:98818
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Spast... OMIM:619616
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Neurodegeneration, Gliosis, Neuronal loss... OMIM:616239
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... OMIM:618497
Huppke-Brendel Syndrome
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination OMIM:614482
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Hypertonia, Rigidity, CNS hypomyelination OMIM:620023
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Astrocytosis, Seizure, Difficulty walking, Slender build OMIM:611087
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:608895
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Impaired proprioception, Impaired vibration sensation in the lower limbs, Optic atrophy, ... OMIM:609033
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Myoclonus, Generalized myocloni... OMIM:301020
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity OMIM:615768
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS myelination, D... ORPHA:477673
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Delayed myelination, Obesity, Cere... OMIM:616756
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Dystonia OMIM:616763
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Gait disturbance, ... OMIM:618400
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Succinic Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) ... OMIM:271980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Seizure, Spasticity OMIM:300983
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Neurodegeneration, Cerebellar ... OMIM:214150
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Babinski s... OMIM:604360
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep... ORPHA:88628
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation, Distal sensory impairment OMIM:614455
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia OMIM:617862
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia, Cerebral cortical atrophy ORPHA:1188
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Congenital Disorder Of Glycosylation, Type Iiy
Agenesis of corpus callosum, Delayed CNS myelination, Bilateral tonic-clonic seizure, Status epil... OMIM:620200
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... OMIM:243000
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Se... ORPHA:101112
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity, Leukodystrophy OMIM:614932
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Delayed myelination, Chore... ORPHA:561854
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod... OMIM:618688
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Myocl... OMIM:617976
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615889
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Kyphosi... ORPHA:171629
Developmental And Epileptic Encephalopathy 97
Tremor, Seizure, Epileptic spasm OMIM:619561
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Gliosis, Myoclon... ORPHA:99802
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Multifocal seizures, Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Status ... OMIM:615905
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy, CNS hypomyelination OMIM:615760
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Abno... ORPHA:289266
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Optic disc pallor, Ataxia, Gliosis OMIM:612936
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, D... ORPHA:101085
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity OMIM:278780
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Abnormal motor nerve conduction velocity, Distal sensory impairment ORPHA:100998
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis... OMIM:213600
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Delayed peripheral ... ORPHA:464282
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Glutaric Acidemia I
Rigidity, Delayed myelination, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Se... OMIM:231670
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Decreased nerve conduction velocity ORPHA:868
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:619913
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... OMIM:256850
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal... OMIM:612674
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Babinski sign, Focal to... OMIM:617105
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis ORPHA:27
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... ORPHA:216873
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... ORPHA:140927
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, Status epilepticus, Focal impaired awareness sei... OMIM:613970
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Optic atrophy, Gliosis, Cerebellar hypoplasia, Cerebral cortical ... OMIM:277470
Developmental And Epileptic Encephalopathy 29
Chorea, CNS hypomyelination, Blepharospasm, Limb dystonia, Spasticity OMIM:616339
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Spastic tetraparesis, Tonic seizure, Infantile spasms, Clonic sei... OMIM:618012
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Focal motor seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-onset seizure, Gait ... OMIM:618917
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Generalized non-motor (absence) seizure, Focal motor... OMIM:617665
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Tangier Disease
Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip... OMIM:205400
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Demyelinating peripheral ... OMIM:614559
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Failure to thrive, Ataxia OMIM:618951
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Axonal loss, Abolished vibration sense, Motor axonal n... OMIM:620068
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Peripheral demyelination OMIM:616733
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Peripheral demyelination OMIM:272200
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Dysmetria, CNS hypomyelination OMIM:618863
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... ORPHA:139480
Combined Saposin Deficiency
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations, CNS demyelination OMIM:611721
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Delayed myelinat... ORPHA:485350
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Degeneration of anterior horn cells, Hypoplasia of t... OMIM:607596
Kohlschutter-Tonz Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Spasticity OMIM:226750
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormal sperm head morpho... ORPHA:320391
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Kyphosis, Babinski sign, Optic atrophy, Spastic ... OMIM:609541
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Mitochondrial Complex I Deficiency, Nuclear Type 15
CNS demyelination, Bilateral tonic-clonic seizure, Spastic tetraplegia, Dystonia OMIM:618237
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait a... OMIM:618387
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Athetosis, Abnormal CNS myelination, Dystonia, Spasticity OMIM:612951
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Seizure, Gliosis OMIM:613002
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Spasticity, Babinski sign, Bilateral tonic-clonic seizure with generalized o... OMIM:618770
Brain Small Vessel Disease 2
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:614483
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Ddost-Cdg
Tremor, Oromotor apraxia, CNS hypomyelination ORPHA:300536
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis OMIM:616286
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... OMIM:619519
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Dysmetria, Gait ataxia, Dystonia OMIM:203740
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Optic atrophy, Cerebral atrophy, Choreoathetosis, Leukodystrophy, Ol... OMIM:278800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Optic atrophy, Seizure OMIM:619470
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary movements ORPHA:209370
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, Hypertonia, Spasticity, CNS hypomyelination OMIM:616577
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, Myoclonus, CNS hypomyelination OMIM:616158
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... OMIM:162400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Spasticity, Dystonia, Simplified gyral pattern, CNS hypomyelination OMIM:619286
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Spi... OMIM:162210
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy OMIM:614116
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Optic atrophy, CNS hypomyelination, Frontal cortical atrophy, Cerebral cortica... OMIM:618437
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Hemiparesis, Sei... OMIM:604317
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... OMIM:616688
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... OMIM:218000
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... OMIM:204200
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment, Axonal loss, Steppage gait,... OMIM:118300
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand trem... OMIM:614409
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic p... OMIM:312920
Huntington Disease-Like 1
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Cerebral cortical atrophy ORPHA:157941
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... OMIM:604213
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia... ORPHA:329284
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Ataxia, Optic atrophy, CNS hypomyelination, Gliosis, Tongue fasciculations... OMIM:617193
Adenylosuccinase Deficiency
Gait ataxia, Opisthotonus, CNS hypomyelination, Myoclonus, Hemiplegia, Cerebral hypomyelination, ... OMIM:103050
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine m... ORPHA:309854
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Peroxisome Biogenesis Disorder 11A (Zellweger)
Polymicrogyria, Lissencephaly, CNS hypomyelination OMIM:614883
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A... ORPHA:98759
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, CNS hypomyelination OMIM:619908
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Seizure, Pill-rolling tremor, Shuf... OMIM:615528
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... OMIM:617290
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Cerebellar hypoplasia, Abnormal myelination ORPHA:352682
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Abnormality of the seventh cranial nerve, Distal ... ORPHA:90117
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra... ORPHA:71517
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Leukodystrophy, Hypomyelinating, 10
Babinski sign, CNS hypomyelination, Hyperkinetic movements, Leukodystrophy, Spasticity OMIM:616420
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Delayed CNS myelination, Ataxia, CNS hypomyelination, Cervical myelopathy, Tet... OMIM:619260
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal proprioception, Impaired vibration sen... OMIM:270685
Severe Canavan Disease
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Decerebrate rigidity, Spasticity ORPHA:314911
Spinocerebellar Ataxia 10
Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Bradykinesia, Ga... OMIM:603516
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d... ORPHA:391417
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Partial agenesis of the corpus callosum, Cerebellar gliosis, Cerebral atrophy, Gliosis, B... ORPHA:79243
Spinocerebellar Ataxia 34
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... OMIM:133190
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy OMIM:618453
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Ataxia, Optic atrophy, Dysmetria, CNS hypomyelination, Leukodystrophy, Spasticity, Pachygyria OMIM:619576
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia OMIM:617916
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... OMIM:238970
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Cerebral cortical atrophy, Abnormal upper m... OMIM:606353
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Delayed CNS myelination, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Chor... OMIM:617964
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Gait disturbance,... OMIM:603472
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Paresthesia, Abnormality of peripheral nerve conduction, Cerebral cortical atr... ORPHA:48431
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Abnormal pyramidal sign, Cerebral atrophy,... OMIM:617435
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Ankle clonus, Focal impaired ... OMIM:301058
Coasy Protein-Associated Neurodegeneration
Peripheral axonal neuropathy, Parkinsonism, Difficulty walking, Spastic paraparesis ORPHA:397725
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Delayed myelination, Optic atrophy, Simplified gyral pattern, CNS hypomyeli... OMIM:614261
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Impaired pain sensation, Gait disturbance, Abnormal au... ORPHA:139578
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... OMIM:618170
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Babinski sign, Slurred speech, ... ORPHA:93952
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance... ORPHA:289560
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Severe demyelination of the white matter, Seizure, Bilateral tonic-clonic seizure, Gait ataxia ORPHA:488635
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, ... OMIM:618877
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Limb ataxia, ... OMIM:109150
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Axonal loss, Hyperton... OMIM:252160
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Peho Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Peripheral dysmyelina... OMIM:260565
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, F... OMIM:614498
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Spastic hemiparesis, Foc... ORPHA:268947
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... OMIM:604377
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Obesity, Limb dystonia OMIM:620270
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Chorea, Convulsive status epilepticus, Dystonia OMIM:618760
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset, Clumsiness ORPHA:158
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Peripheral axonal neuropathy, Impaired distal proprioception, Tremor, Dysmyelinat... ORPHA:137898
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff... OMIM:614946
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebella... ORPHA:504476
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Diffuse demyelinatio... OMIM:203450
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine... OMIM:601104
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... OMIM:620028
Wild Type Abeta2M Amyloidosis
Dysesthesia, Decreased nerve conduction velocity, Axonal loss, Paresthesia, Decreased amplitude o... ORPHA:85446
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Ocul... ORPHA:529665
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Cerebral dysmyelination OMIM:201550
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Myoclonus, ... OMIM:159950
Obesity, Hyperphagia, And Developmental Delay
Seizure, Delayed myelination, Generalized non-motor (absence) seizure OMIM:613886
Leigh Syndrome
CNS demyelination, Optic atrophy, Gliosis, Ataxia OMIM:256000
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure,... OMIM:619428
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Impaired pain sensation ORPHA:2926
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Seizure, Brad... OMIM:261640
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis OMIM:608033
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Delayed myelination, Chore... OMIM:618451
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Opisthotonus, ... OMIM:619653
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Agenesis o... ORPHA:250972
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Optic atrophy, Dysmetria, CNS hypomyelination, Leukodystrophy, Dystonia,... OMIM:619708
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce... OMIM:203700
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Peripheral axonal neuropathy, Ataxia, Kyphosis, Obesity, Scoliosis OMIM:618124
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... ORPHA:2585
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
Neuropathy, Congenital Hypomyelinating, 3
Babinski sign, CNS hypomyelination, Facial diplegia, Dystonia, Spasticity OMIM:618186
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si... ORPHA:352582
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Prune1-Related Neurological Syndrome
Epileptic spasm, Clonus, Spastic tetraparesis, Delayed myelination, Myoclonic seizure, Seizure, T... ORPHA:544469
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Babinski sign, CNS hypomyelination, Spastic paraparesis, Hand apraxia ORPHA:280229
Sarcosinemia
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure ORPHA:3129
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls OMIM:300718
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Seizure, Hypertonia, Spasticity ORPHA:33445
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations OMIM:620007
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Ataxia, Parkinsonism, Inability to walk, Paraparesis, Atrophy of th... ORPHA:2822
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Ataxia ORPHA:796
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cerebral atrophy, Leukod... OMIM:619851
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior be... OMIM:230650
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Gait ataxia, Sen... OMIM:616192
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Axonal loss, Gliosis, Myoclonic... OMIM:252150
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, CNS hypomyelination, Fascic... OMIM:268800
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Glutamine Deficiency, Congenital
Brain atrophy, CNS hypomyelination OMIM:610015
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu... ORPHA:101070
Horner Syndrome, Congenital
Paralysis OMIM:143000
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... ORPHA:79263
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy OMIM:619864
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity, CNS hypomyelination ORPHA:309155
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Myoclonus, Tongue fasciculations, Pachygyria OMIM:614922
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at... OMIM:614575
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Spastic tetraplegia,... OMIM:609136
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Delayed CNS myelination, Ataxia, Gait ataxia, Opisthotonus, Choreoathetosis, CNS hypomyelination,... OMIM:619580
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... OMIM:300607
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormality of the vert... ORPHA:909
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P... ORPHA:254881
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis, Abnormality of e... OMIM:616140
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Severe demyelination of the white matter, CNS hypomyelination, Spasticity, Limb hypertonia ORPHA:481152
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei... ORPHA:70594
Dentici-Novelli Neurodevelopmental Syndrome
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure, Hype... OMIM:619877
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia ORPHA:139485
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... ORPHA:36386
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Optic disc pallor, Decreased motor nerve conduction velocity, Impai... OMIM:164400
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Hypertonia, Hemipl... OMIM:272300
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, D... OMIM:616505
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involvin... ORPHA:139399
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... OMIM:619854
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to ... ORPHA:3095
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Pachygyria, Simplified gyral pattern, CNS hypomyelination OMIM:615966
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Cervical spinal... ORPHA:363722
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypertonia, Simplified gyral pattern, CNS hypomyelination OMIM:618622
Charcot-Marie-Tooth Disease Type 1E
Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Impaired ... ORPHA:90658
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Fasciculations, Testicular atrophy OMIM:313200
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... OMIM:201300
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... OMIM:607060
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... OMIM:613640
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance ORPHA:2928
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Hypoplastic anterior com... OMIM:618325
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Babinski sign, Ataxia, Leukodystrophy OMIM:618242
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Ataxia, Kyphosis, Atrophy/Degeneration affecting the b... ORPHA:88644
Developmental And Epileptic Encephalopathy 17
Athetosis, Delayed CNS myelination, Chorea, Dystonia OMIM:615473
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesi... ORPHA:53351
Developmental And Epileptic Encephalopathy 61
Seizure, Spasticity, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Aminoacylase 1 Deficiency
Seizure, Delayed CNS myelination, Bilateral tonic-clonic seizure OMIM:609924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Delayed myelination, Decreased nerve conduction velocity ORPHA:319514
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Cerebral hypomyelination, Delayed myelination, Optic atrophy OMIM:616683
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Failure to thrive OMIM:619556
Alg2-Cdg
Cerebral hypomyelination ORPHA:79326
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, CNS hypomyelination, Athetosis, Hyperkinetic mo... OMIM:615356
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... OMIM:614831
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Cerebral atrophy, Spastic paraparesis OMIM:618721
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Dysmetria, Ankle cl... OMIM:275900
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Delayed CNS myelination, Ataxia, Myoclonus, Dystonia, Spasticity, Pachygyria OMIM:620094
Glioblastoma
Glioblastoma multiforme, Seizure, Paralysis ORPHA:360
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Limb ataxia, Status e... OMIM:617166
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Kyphosis, Failure to thrive, Clonus ORPHA:319199
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Cln5 Disease
Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Focal-onset seizure, ... ORPHA:228360
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Lethargy, Limb hype... OMIM:233910
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Spastic tetraplegia, ... OMIM:300523
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Seizure, Truncal obesity, Hyperkine... OMIM:300957
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis OMIM:618356
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan... ORPHA:276244
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Peripheral hypomyelination, Ataxia ORPHA:199343
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... OMIM:272750
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Limb ataxia, Gait ataxia, Glios... OMIM:248500
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Seizure, Leukodyst... OMIM:260600
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Cerebellar gliosis, Unsteady gait, Opti... ORPHA:35069
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Opisthotonus, CNS demye... OMIM:271900
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Bilateral tonic-clonic seizure, Rigidity, Abnormal pyramidal sign, Hemiparesis, P... ORPHA:199354
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Vocal cord paralysis, Optic atrophy, Hand tremor, Poor fine motor... ORPHA:99947
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co... OMIM:256840
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Kyphosis, Cereb... OMIM:611890
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Delayed myelination, Cerebellar gliosis, Abnormal pyramidal sign, CNS hypomyelina... ORPHA:3008
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia OMIM:303350
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Leukodystrophy, Dystonia OMIM:615010
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait disturbance, Progres... OMIM:210000
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Optic atrophy, Hypertonia, Leukodystrophy, Dystonia, CNS demyelination OMIM:264470
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Thoracic scoliosis, Peripheral axonal neu... ORPHA:254930
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spastic tetraparesis, Progressi... ORPHA:496756
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Segmental peripheral demyelination/remy... ORPHA:255210
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Leukodystrophy, Progressive ... OMIM:612233
Acute Peripheral Arterial Occlusion
Leukocytosis, Paralysis ORPHA:90064
Multiple Sclerosis, Susceptibility To
CNS demyelination, Spasticity, Incoordination, Paresthesia OMIM:126200
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Slowed slurred ... OMIM:619827
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:612126
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Abnormal peripheral myelination, Tremo... ORPHA:466768
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Incoordination, Ataxia, Clonus, Hydrocephalus, Optic atrophy, Tetraplegi... OMIM:616034
Lissencephaly Due To Tuba1A Mutation
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... ORPHA:171680
Developmental And Epileptic Encephalopathy 3
Generalized myoclonic seizure, Seizure, Delayed myelination, Spasticity OMIM:609304
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Leukodystrophy, Hypomyelinating, 25
Delayed CNS myelination, Dystonia, Gait ataxia OMIM:620243
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Delayed CNS myelination, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity OMIM:615599
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus... ORPHA:401866
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Leukodystrophy ORPHA:1931
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... ORPHA:542310
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory... ORPHA:600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity OMIM:613724
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Decreased compound muscle action potential amplitude, Facial palsy, Waddling ... OMIM:603511
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Cystathioninuria
Tremor, Seizure ORPHA:212
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Paraparesis, Paraplegia, Hemiparesis, Leukodystrophy ORPHA:79124
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure OMIM:615716
Variegate Porphyria
Paralysis OMIM:176200
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... ORPHA:1187
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis OMIM:614198
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Gliosis, Cerebellar hypoplasia ORPHA:3240
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Combined Oxidative Phosphorylation Deficiency 53
Spasticity, CNS hypomyelination OMIM:619423
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Gait ... OMIM:619092
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... OMIM:601152
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Seizure, Myoclonus, Abnormal cranial n... ORPHA:97229
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Frequent falls, Impair... ORPHA:99949
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis ORPHA:85317
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination, Spasticity, Myoclonus OMIM:612949
D-Glyceric Aciduria
Delayed CNS myelination, Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizu... OMIM:220120
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Delayed CNS myelination, Exaggerated startle response, Ataxia, Clonus, Opt... OMIM:616881
Baralle-Macken Syndrome
Kyphosis, Spasticity, Obesity, Global brain atrophy OMIM:619255
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, My... ORPHA:228346
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... OMIM:617302
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Gl... OMIM:619847
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Ataxia, Clonus, Involuntary movements, Multifocal seizures, Bilateral tonic-cloni... ORPHA:480864
Sjogren-Larsson Syndrome
Seizure, Spasticity, CNS demyelination, Spastic paraparesis OMIM:270200
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Infantile spasms, Paraparesis, Focal-onset seizure, Oromotor apraxia, Spas... ORPHA:98889
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Clasp-knife sign, Optic neuropathy, Babinski sign, Hand tremor, Distal sensory... ORPHA:101076
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spasticity, Dystonia, Cataplexy, ... ORPHA:496641
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Atrophy of the spinal cord, Progressive spastic paraparesis, Cerebellar vermi... ORPHA:329308
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Hyperlordosis, Astrocytosis, Pontocerebellar atrophy, Scoliosis, Decreased body weight ORPHA:258
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Optic atrophy, Impaired pro... ORPHA:95
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a... OMIM:229300
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic... ORPHA:168491
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Delayed CNS myelination, Neurodegeneration OMIM:620210
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... OMIM:616795
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Cere... ORPHA:79351
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Scolios... ORPHA:702
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Truncal obesity, Scoliosis ORPHA:2429
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Gait ataxia, Abnormality of extrapyr... ORPHA:500180
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis OMIM:300861
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia... OMIM:312170
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor OMIM:231950
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Seizure, Failure to thrive, Limb hypertonia OMIM:617162
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Infantile spasms, Severe demyelination of the white matter, Hydrocephalus, Optic atrophy,... ORPHA:79282
Arachnoid Cyst
Facial palsy, Inability to walk, Paraparesis, Cranial nerve compression, Slurred speech, Distal s... ORPHA:2356
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsiness OMIM:300558
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Leukodystrophy, Decreased body weight, Intention tremor, Atax... OMIM:619475
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Babinski sign, Bl... OMIM:128100
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Machado-Joseph Disease Type 1
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276241
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Neurodegeneration, Gliosis OMIM:618321
Spinocerebellar Ataxia 21
Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Limb ataxia, Gait ataxia, Cogwhee... OMIM:607454
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Obesity, Seizure, ... ORPHA:3077
Yuan-Harel-Lupski Syndrome
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment, ... OMIM:616652
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Delayed CNS myelination, Multifocal seizures, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia,... OMIM:617710
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Bilateral tonic-clonic seizure OMIM:540000
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:610217
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Hippocampal atrophy, Cerebral atrophy, CNS hypomyelination OMIM:618922
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia ORPHA:1933
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy OMIM:618006
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Splenomegaly, Astrocytosis, Scoliosis,... ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cere... OMIM:615181
D-2-Hydroxyglutaric Aciduria 1
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclon... OMIM:600721
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Facial-lingual fasciculations, Bilateral tonic-clonic seizure, Toni... OMIM:617281
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Delayed myelination, Seizure, Hypertonia, Spast... ORPHA:544503
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Shuffling gait, Myoclonu... OMIM:168601
Leigh Syndrome
Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Choreoathetosis, Athetosis, Gliosis, Leukodyst... ORPHA:506
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Delayed myelination, Seizure, Focal impaired awareness seizure, L... ORPHA:488613
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic se... ORPHA:98784
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... ORPHA:363400
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Limb ataxia, Gait atax... OMIM:614871
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
CNS demyelination, Babinski sign, Myoclonus, Apraxia OMIM:618193
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Parkinsonism, Bilateral tonic-clonic seizure, Clumsiness, Poor fine moto... ORPHA:79264
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Marbach-Rustad Progeroid Syndrome
Intention tremor, CNS hypomyelination OMIM:619322
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Lower limb spasticity, Hyperlordosis, Kyphosis, Babinski sign, Fasciculations, Scoliosis OMIM:615290
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neurop... OMIM:612780
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... ORPHA:168563
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity, Failure to... OMIM:248800
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis... OMIM:616672
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Delayed myelination, Babinski sign,... ORPHA:423479
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Chor... OMIM:606002
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... ORPHA:544254
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia OMIM:620358
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure ORPHA:3124
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Spasticity, Ataxia, Leukodystrophy, Dystonia OMIM:619224
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, I... ORPHA:370022
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Delayed CNS myelination, Bilateral tonic-clonic seizure OMIM:618832
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Generalized-onset seizure, Tremor, Hypoesthesia,... OMIM:619737
Farber Disease
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity ORPHA:333
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy ORPHA:683
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Seizure, Lower limb hypertonia, Spastic paraparesis,... ORPHA:3208
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... OMIM:105210
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus, Leukodystrophy OMIM:618225
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat... OMIM:615673
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Corpus callosum atrophy, Decreased nerve conduction velocity, Cerebral atrophy... ORPHA:565624
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal CNS myel... OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination, Progressive spastic paraplegia ORPHA:521390
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia, Optic atrophy, Neurodegenerat... OMIM:614298
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, CNS hypomyelination ORPHA:88618
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... ORPHA:320375
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Ataxia, Dystonia, Small for gestational age, Tremor, Dysmetria, Seizur... OMIM:220111
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Spastic hemipare... ORPHA:268940
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ... OMIM:500013
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... ORPHA:765
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,... ORPHA:139417
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:607485
Lissencephaly, X-Linked, 2
Seizure, Spasticity, Agenesis of corpus callosum, Gliosis OMIM:300215
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed CNS myelination, Exaggerated startle response, CNS hypomyelination, Hypertonia, Cerebral ... OMIM:618367
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... ORPHA:501
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality, Ataxia, Gait disturbance ORPHA:812
Pyruvate Carboxylase Deficiency
Athetosis, Clonus, Leukodystrophy OMIM:266150
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Delayed CNS myelination, Short neck, Kyphosis, Hepatosplenomegaly, Failure to... OMIM:608776
Aicardi-Goutieres Syndrome 4
Spasticity, Hydrocephalus, Leukodystrophy, Dystonia OMIM:610333
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Delayed myelination OMIM:618512
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration OMIM:222765
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Spastic Paraplegia Type 2
Ataxia, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, S... ORPHA:99015
Joubert Syndrome 33
Oculomotor apraxia, Delayed CNS myelination, Ataxia OMIM:617767
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur... OMIM:619983
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615919
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Schilder Disease
Ankle clonus, CNS demyelination, Ataxia ORPHA:59298
Winchester Syndrome
Kyphosis OMIM:277950
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Athetosis, Seizure, Focal imp... ORPHA:369929
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... ORPHA:395
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg... ORPHA:298
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Kyphosis, Scoliosis ORPHA:3454
Metatropic Dysplasia
Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ... OMIM:156530
Hyperphosphatasia-Intellectual Disability Syndrome
Oculomotor apraxia, Cerebral hypomyelination, Ataxia, Myoclonus ORPHA:247262
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Seizure, Increased body weight, Lethargy ORPHA:276608
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Sensory axonal ne... OMIM:618733
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Delayed CNS myelination, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (ab... OMIM:615802
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Flynn-Aird Syndrome
Ataxia, Cachexia, Kyphosis, Scoliosis, Cerebral cortical atrophy ORPHA:2047
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Typ... ORPHA:845
Gm2 Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy ORPHA:309246
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
3-Methylglutaconic Aciduria, Type Viia
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic sei... OMIM:619835
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo... OMIM:620070
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Optic disc pallor, Delayed myelination, Chorea, Optic atrophy, Cerebral atrop... ORPHA:404454
Japanese Encephalitis
Dystonia, Weakness due to upper motor neuron dysfunction, Bilateral tonic-clonic seizure, Paralys... ORPHA:79139
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure, Intention tremor OMIM:618381
Fucosidosis
Spastic tetraplegia, CNS hypomyelination, Dystonia, Hemiplegia, Spastic gait OMIM:230000
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized myoclonic seiz... OMIM:615501
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Intellectual Developmental Disorder, Autosomal Dominant 42
Cerebral palsy, Bilateral tonic-clonic seizure, Dystonia, Infantile spasms, Tonic seizure, Focal ... OMIM:616973
Leukoencephalopathy With Ataxia
Optic neuropathy, Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Optic atrophy, Chiari type I malformation, Neurodegeneration, Cerebellar hypoplasia, Agen... OMIM:618476
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Waardenburg Syndrome, Type 4A
Ataxia, Leukodystrophy, Spastic paraparesis OMIM:277580
Jaberi-Elahi Syndrome
Appendicular spasticity, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Choreoat... OMIM:617988
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Seizure, Dystonia, Spasticity OMIM:617664
Houge-Janssens Syndrome 3
Delayed CNS myelination, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:618354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Frequent ... OMIM:606612
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis ORPHA:2598
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Delayed myelination, Cerebral atrophy, Scolios... OMIM:314580
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis OMIM:615834
Ataxia-Telangiectasia
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Gliosis, Spasticity ORPHA:88619
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Spasticity ORPHA:352490
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Chore... ORPHA:391428
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Rett Syndrome
Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity, Cerebral co... OMIM:312750
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Facial palsy, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculat... OMIM:211530
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Focal impaire... OMIM:610042
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Athetosis, Agenesis of corpu... OMIM:619435
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Babinski sign, Optic atrophy, Leukodystrophy, Dystonia OMIM:618226
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Leukodystrophy OMIM:620269
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Partial agenesis of the corpus callosum, Vocal cord paralysis, Seizure, Myoclonu... ORPHA:500144
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad-based gait, Ataxia, Epicanthus, Telecanthus, Upslanted palpeb... ORPHA:438216
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclonus, Spasticity ORPHA:364028
Alternating Hemiplegia Of Childhood
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... ORPHA:2131
Marchiafava-Bignami Disease
Ataxia, Facial palsy, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Tetraparesis, ... ORPHA:221074
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Difficulty w... ORPHA:309271
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... ORPHA:485421
Classic Phenylketonuria
Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia ORPHA:79254
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Hypomelanosis Of Ito
Kyphosis, Scoliosis, Cerebral atrophy OMIM:300337
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Low... OMIM:169400
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Leukodystrophy ORPHA:309263
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Kyphosis OMIM:615084
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ho... ORPHA:139396
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Hengel-Maroofian-Schols Syndrome
Tetraplegia, Abnormal CNS myelination, Dystonia, Spasticity, Upper motor neuron dysfunction OMIM:619641
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp... ORPHA:240071
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Tremor, Optic atrophy, Vocal cord paralysis, Poor fine motor coordination, Scolio... ORPHA:99956
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Microcytic anemia, Kyphosis, Abnormal sacrum morphology, Optic atrophy ORPHA:324737
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Kyphosis, Obesity, Hyperlordosis ORPHA:3085
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Spastic tetraplegia, CNS hypomyelination OMIM:619306
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct... ORPHA:477817
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Gliosis, Truncal ataxia, Cerebral cortical atrophy OMIM:301072
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Seizure, Tetraparesis, Spasticity OMIM:164200
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Cerebral dysmyelination OMIM:261515
Secondary Syringomyelia
Somatic sensory dysfunction, Paraplegia, Sensory ataxia, Progressive cerebellar ataxia, Pseudobul... ORPHA:99857
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Developmental And Epileptic Encephalopathy 100
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-o... OMIM:619777
Sneddon Syndrome
Facial palsy, Tremor, Seizure, Impaired distal tactile sensation, Hemiplegia OMIM:182410
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Bilateral tonic-clonic seizure, Truncal ataxia ORPHA:369840
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Bilateral tonic-clonic seizure ORPHA:79350
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Focal-onset seizure, Generalized-onset seizure, Status epilepticus, Paralysis ORPHA:83601
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls ORPHA:75840
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bilateral tonic-clonic sei... ORPHA:42
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy OMIM:619797
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Small for gestational age, Scoliosis OMIM:618484
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Cerebellar hypoplasia ORPHA:261652
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Gliosis, Ataxia, CNS hypomyelination ORPHA:268261
Insulinoma
Tremor, Increased body weight, Seizure, Paresthesia, Abnormality of pain sensation, Lethargy, Neu... ORPHA:97279
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal glossopharynge... ORPHA:221098
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build OMIM:254090
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Delayed CNS myelination OMIM:620114
Wieacker-Wolff Syndrome, Female-Restricted
Delayed CNS myelination, Facial palsy, Short neck, Kyphosis, Scoliosis, Brain atrophy, Oculomotor... OMIM:301041
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Myopathy, Centronuclear, 2
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:255200
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... ORPHA:94080
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Poor gross motor coordination, Oligo... ORPHA:330015
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia, Difficulty walking ORPHA:329478
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, M... OMIM:615398
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... OMIM:618056
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vibratory sen... ORPHA:2388
Dpagt1-Cdg
Ataxia, Tremor, Optic atrophy, CNS hypomyelination, Hypertonia, Diffuse optic disc pallor ORPHA:86309
Combined Oxidative Phosphorylation Deficiency 4
Spasticity, Polymicrogyria, Leukodystrophy, Opisthotonus OMIM:610678
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Amish Lethal Microcephaly
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Ataxia, Gait disturbance OMIM:614863
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor,... ORPHA:25
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Olivopontocerebellar atrophy, Ataxia OMIM:146500
Multiple Mitochondrial Dysfunctions Syndrome 3
Polymicrogyria, Optic atrophy, Spastic tetraplegia, Leukodystrophy OMIM:615330
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy ORPHA:79327
Warburg Micro Syndrome 3
Lower limb spasticity, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, An... OMIM:614222
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Delayed myelination, Abnormal pons morphology, Gliosis, Cerebellar hypoplasia, Neuronal loss in c... OMIM:300868
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:2471
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Delayed myelination... OMIM:618443
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Cerebral atrophy, Gliosis OMIM:124000
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait dist... ORPHA:83629
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Cockayne Syndrome B
Failure to thrive, Ataxia, Abnormal peripheral myelination, Small for gestational age, Tremor, Op... OMIM:133540
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Papillorenal Syndrome
Chiari type I malformation, Optic disc coloboma, Gliosis OMIM:120330
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Igg4-Related Pachymeningitis
Paraparesis, Seizure ORPHA:449427
Sialidosis Type 2
Splenomegaly, Kyphosis, Ataxia, Tremor ORPHA:87876
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Seizure, Vocal cord paralysis ORPHA:397744
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... OMIM:620024
Arnold-Chiari Malformation Type I
Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the twelfth crania... ORPHA:268882
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebral bodies, Hyperto... OMIM:230500
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... ORPHA:79138
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Leukodystrophy, S... OMIM:614299
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Central nervous system degeneration, In... ORPHA:447788
Congenital Insensitivity To Pain With Severe Intellectual Disability
Delayed CNS myelination, Bilateral tonic-clonic seizure ORPHA:453510
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tre... OMIM:615512
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Clonus, Hypertonia, Myoclonic spasms, Cerebral hypomyelination ORPHA:447997
Biotinidase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Spastic p... ORPHA:79241
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with focal onset, F... ORPHA:163681
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Tremor, Delayed myelination, Obesity, Seizure, Myoclonus, Gait imbalance ORPHA:98794
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Myoclonic seizure, Seizure, Cervical myelopath... OMIM:617186
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Kyphosis, Gait ataxia, Abdominal obesity, Cerebellar vermis atrophy OMIM:300354
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity ORPHA:760
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Seizure, Dysmetria, Hand tremor ORPHA:3041
Aicardi-Goutieres Syndrome 5
Spasticity, Leukodystrophy OMIM:612952
Cockayne Syndrome
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Somatic sensory dysfunction,... ORPHA:191
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ... ORPHA:97349
Pituitary Dermoid And Epidermoid Cysts
Abnormal central motor function, Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Cockayne Syndrome A
Failure to thrive, Ataxia, Abnormal peripheral myelination, Tremor, Optic atrophy, Seizure, Norma... OMIM:216400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:181405
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, G... OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Vocal cord paralysis, Seizure, Hyp... OMIM:617799
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Optic disc pallor, Leukodystrophy, Dystonia OMIM:617762
Developmental And Epileptic Encephalopathy 95
Delayed CNS myelination, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Focal-onset... OMIM:618143
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Tick-Borne Encephalitis
Back pain, Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Leukocytosis, Abnorma... ORPHA:297
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Porphyria, Acute Intermittent
Seizure, Respiratory paralysis, Paralysis OMIM:176000
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... OMIM:620224
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Cerebral dysmyelination, Infantile spasms, Tremor, I... ORPHA:72
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Inability... OMIM:619229
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Le... ORPHA:431361
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Scoliosis ORPHA:2181
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Severe demyelination of the white matter, Seizure, Delayed myelination, Spastic paraparesis ORPHA:391408
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Optic disc coloboma, Simplified gyral patte... OMIM:615948
Hermansky-Pudlak Syndrome 10
Delayed CNS myelination, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia OMIM:617050
Webb-Dattani Syndrome
Delayed CNS myelination, Spasticity, Bilateral tonic-clonic seizure OMIM:615926
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Babinski sign, Abnormal py... OMIM:617527
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination, Hypertonia OMIM:611584
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Pain insensitivity, Ata... OMIM:256810
Warburg Micro Syndrome 4
Cerebellar atrophy, Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, ... OMIM:615663
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-c... ORPHA:435638
Gm1 Gangliosidosis
Ataxia, Hyperlordosis, Tremor, Kyphosis, Splenomegaly, Optic atrophy, Abnormal form of the verteb... ORPHA:354
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Gait disturbance, Neurodegeneration, Ataxia OMIM:214500
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive ORPHA:536516
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Leukodystrophy, Truncal ataxia OMIM:619051
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Wiedemann-Rautenstrauch Syndrome
Ataxia, Action tremor, Tremor, Hydrocephalus, Optic atrophy, CNS hypomyelination, Hypertonia, Leu... ORPHA:3455
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paralysis, Obesity, S... ORPHA:98863
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Short neck ORPHA:178148
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Delayed CNS myelination, Chorea, Delayed myelination, Dysmetria, Athetosis, G... OMIM:615273
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Supranuclear Palsy, Progressive, 2
Neuronal loss in central nervous system, Gliosis, Granulovacuolar degeneration OMIM:609454
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Spasticity, Agene... ORPHA:2396
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremo... OMIM:614947
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:220497
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity ORPHA:352447
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Melas
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hem... ORPHA:550
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Weight loss, Bradykinesia, Gliosis, Shuffling gait, Dystonia ORPHA:411602
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paralysis OMIM:612300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Dysgyria, Limb hypertonia OMIM:620327
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Blepharophimosis, Ptosis, Downslanted palpebral fissures, Abnormal myelination OMIM:617333
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leuk... ORPHA:646
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Weaver Syndrome
Delayed CNS myelination, Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (a... OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Seizure... ORPHA:572798
Joubert Syndrome
Encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:475
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Optic atrophy, Progressive... ORPHA:521426
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... ORPHA:90321
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Obesity, Scoliosis ORPHA:98853
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Crisponi Syndrome
Kyphosis, Hypertonia, Scoliosis ORPHA:1545
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegia, Scoliosis ORPHA:171436
Harrod Syndrome
Kyphosis, Failure to thrive, Cerebral cortical atrophy, Scoliosis ORPHA:2115
Alexander Disease
Ataxia, Clonus, Facial palsy, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyrami... ORPHA:58
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Obesity, Scoliosis, Short neck ORPHA:3191
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Decr... ORPHA:456312
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Optic atrophy, Cerebral atrophy, Gait ataxia, Neurodegeneration OMIM:616878
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Failure to thrive OMIM:617864
4Q21 Microdeletion Syndrome
Tremor, Kyphosis, Scoliosis, Short neck ORPHA:238750
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Paresth... ORPHA:79093
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Scoliosis, Frequent falls OMIM:607155
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
Weismann-Netter Syndrome
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... ORPHA:349
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Kyphosis, Scoliosis, Spina bifida occulta, Cerebral cortical atrophy OMIM:618291
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Alpha-Mannosidosis
Splenomegaly, Kyphosis, Scoliosis, Short neck ORPHA:61
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Seizure, Gliosis, Dystonia OMIM:618222
Chédiak-Higashi Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Decreased nerve conduction velocity, Atr... ORPHA:167
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, ... ORPHA:101000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Truncal ataxi... OMIM:620066
Arthrogryposis, Distal, Type 5
Kyphosis, Hypertonia, Scoliosis OMIM:108145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Schaaf-Yang Syndrome
Kyphosis, Failure to thrive in infancy, Obesity, Scoliosis OMIM:615547
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Scoliosis, Patchy demyelination of subcortical white mat... ORPHA:90322
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Peripheral axonal neuropathy, Failure to thrive, Ataxia, Facial palsy, Tremor, Ri... ORPHA:254892
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, ... ORPHA:478
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spasticity OMIM:618426
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Tetraplegia, Seizure, Generalized myoclonic seizure, Agenesis of ... OMIM:257300
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Facial palsy, Scoliosis OMIM:617143
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S... ORPHA:2203
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Spastic paraparesis ORPHA:369891
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity OMIM:256800
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell... OMIM:208900
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Dystonia OMIM:610505
Young-Onset Parkinson Disease
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Dystonia, Spa... ORPHA:2828
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Delayed CNS myelination, Ataxia, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity OMIM:608885
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Tip-toe gait, Ataxia, Gait disturbance ORPHA:512
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Argininemia
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... OMIM:207800
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
15Q24 Microdeletion Syndrome
Small for gestational age, Kyphosis, Obesity, Scoliosis, Failure to thrive ORPHA:94065
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Myoclonus, Leukodystrophy OMIM:614462
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Abnormal CNS myelination, Myoclonus, Cortical myoclonus OMIM:615816
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive ORPHA:420794
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo... OMIM:612199
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:98855
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Cerebral hypomyelination, Pachygyria, Gait ataxia ORPHA:513456
Emanuel Syndrome
Sacral dimple, Torticollis, Kyphosis, Cerebral atrophy, Scoliosis, Failure to thrive OMIM:609029
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus ORPHA:43116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Leukodystrophy OMIM:616538
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:253220
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Epidermal Nevus Syndrome
Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Hypertonia ORPHA:35125
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Incoordination, Scoliosis OMIM:223900
Inhalational Botulism
Paralysis ORPHA:254504
Urban-Rogers-Meyer Syndrome
Kyphosis, Obesity, Short neck ORPHA:3409
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:614231
Rett Syndrome, Congenital Variant
Kyphosis, Delayed myelination, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
Arthrogryposis, Distal, Type 4
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis OMIM:609128
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si... ORPHA:51
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosplenomegaly, Abnor... OMIM:607014
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compr... OMIM:259730
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Seizure, Periodic paralysis ORPHA:37553
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Failure to thrive ORPHA:583
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Micro Syndrome
Kyphosis, Optic atrophy, Scoliosis, Spasticity, Cerebral cortical atrophy ORPHA:2510
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Ganglioneuroma OMIM:162300
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Bohring-Opitz Syndrome
Delayed peripheral myelination, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:605039
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Long eyelashes, Ptosis OMIM:617301
Cocaine Intoxication
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... ORPHA:90068
Monosomy 18Q
Epicanthus, Astrocytoma, Choreoathetosis, Downslanted palpebral fissures, Abnormal myelination, F... ORPHA:1600
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Involuntary movements, Diaphragmatic paralysis, Abnormal pyr... ORPHA:83597
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Tongue fasciculations, Leukodystrophy, Spa... OMIM:252010
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Alg8-Cdg
Ataxia, Optic atrophy, Leukodystrophy ORPHA:79325
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Camurati-Engelmann Disease
Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Optic atrophy, Leukopenia,... ORPHA:1328
Pycnodysostosis
Cerebral dysmyelination, Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Spondylolysis, ... ORPHA:763
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Delayed CNS myelination, Tremor, Babinski sign, Hypertonia, Spasticity, Failure to thrive OMIM:616539
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Lujo Hemorrhagic Fever
Resting tremor, Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Delayed CNS myelination, Ataxia, Choreoathetosis, Leukodystrophy, Dystonia OMIM:615471
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Delayed myelination OMIM:615574
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... OMIM:253010
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Mucopolysaccharidosis, Type Ii
Papilledema, Short neck, Kyphosis, Splenomegaly, Hepatosplenomegaly, Neurodegeneration OMIM:309900
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Spasticity, Bilateral tonic-clonic seizure OMIM:301040
Trisomy 13
Kyphosis, Optic atrophy, Scoliosis ORPHA:3378
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Short neck, Tremor, Kyphosis, Obesity, Scoliosis ORPHA:85293
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Optic atrophy, Obesity, Scoliosis OMIM:618493
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic atrophy, Scoliosis, ... ORPHA:261349
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Polymicrogyria, Agyria, Leukodystrophy ORPHA:370997
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Gitelman Syndrome
Seizure, Ataxia, Paralysis OMIM:263800
Coffin-Lowry Syndrome
Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis, Progressiv... ORPHA:192
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Partial agenesis of the c... OMIM:619512
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Wilson Disease
Decreased nerve conduction velocity, Hypoesthesia, Mixed demyelinating and axonal polyneuropathy OMIM:277900
3C Syndrome
Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis ORPHA:7
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Dysmetria, Thrombocytosis, Failure to thrive, Inten... OMIM:212065
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination, Subcortical cerebral atrophy ORPHA:440713
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Scoliosis, Cerebral atrophy OMIM:616449
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coc... OMIM:300966
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Spasticity, Hydrocephalus, CNS hypomyelination OMIM:619534
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Eales Disease
Optic disc pallor, Spastic paraparesis ORPHA:40923
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Optic atrophy, Obesity, Scoliosis, Neutropenia ORPHA:193
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu... ORPHA:466943
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Scoliosis, C... OMIM:617011
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls OMIM:620351
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination, Hydrocephalus OMIM:614886
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Distal sensory impairment OMIM:606071
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Gabriele-De Vries Syndrome
Delayed myelination, Agenesis of corpus callosum, Gliosis ORPHA:506358
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia OMIM:617190
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Corpus callosum atrophy, Kyphosis, Cerebral atrophy OMIM:619244
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Aicardi-Goutieres Syndrome 1
CNS demyelination, Spasticity, Abnormality of extrapyramidal motor function, Dystonia OMIM:225750
19P13.12 Microdeletion Syndrome
Kyphosis, Obesity, Scoliosis, Short neck ORPHA:254346
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Kyphosis, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia ORPHA:261250
Rere-Related Neurodevelopmental Syndrome
CNS demyelination, Optic atrophy ORPHA:494344
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i... ORPHA:642
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Apraxia ORPHA:99885
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Helsmoortel-Van Der Aa Syndrome
Gliosis, Facial palsy OMIM:615873
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Friedreich Ataxia 2
Impaired vibratory sensation, Ataxia, Abnormality of peripheral nerve conduction OMIM:601992
Pineoblastoma
Seizure, Paralysis ORPHA:251909
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Kyphosis, Scoliosis OMIM:617061
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Brain atrophy, Scoliosis, F... ORPHA:79329
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... OMIM:301044
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive ORPHA:476126
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Ramon Syndrome
Kyphosis, Optic disc pallor, Scoliosis, Decreased body weight OMIM:266270
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Hallermann-Streiff Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:234100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Dysplastic corpus callosum, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Delayed CNS myelination, Kyphosis, Scoliosis, Decreased body ... OMIM:619005
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Ataxia, Tetraplegia, Hypertonia, Hemiplegia, CNS demyelination OMIM:603553
Gaucher Disease
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Hemiplegia/hemipar... ORPHA:355
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Leukopenia, Vertebral comp... ORPHA:77259
Microphthalmia, Lenz Type
Kyphosis, Optic disc coloboma, Scoliosis, Hyperlordosis ORPHA:568
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Kyphosis, Chorea, Platysp... ORPHA:1855
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Trisomy 20P
Incoordination, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:261318
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Delayed peripheral myelination ORPHA:364577
Marshall-Smith Syndrome
Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the odontoid process, K... OMIM:602535
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Scoliosis, Periodic paralysis OMIM:170390
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Poor gross motor co... OMIM:614756
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Split Cord Malformation
Paraparesis ORPHA:573278
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Scoliosis, Failure to thriv... OMIM:610443
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Aspartylglucosaminuria
Kyphosis, Vacuolated lymphocytes, Cerebral atrophy, Spasticity, Platyspondyly, Spondylolysis, Sco... OMIM:208400
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Optic neuropathy, Leukodystrophy ORPHA:2609
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Gait ataxia OMIM:280000
Marden-Walker Syndrome
Kyphosis, Scoliosis, Short neck OMIM:248700
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis OMIM:607015
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Failure to thrive, Scoliosis ORPHA:500055
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Leukemia, Scoliosis OMIM:619951
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Small for gestational age, Kyphosis, Scoliosis, Failure to thrive, Abnormality... ORPHA:464311
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the... ORPHA:459070
Oculodentodigital Dysplasia
Ataxia, Optic atrophy, Gait disturbance, Spastic paraparesis, Spasticity ORPHA:2710
Cowden Syndrome 1
Kyphosis, Lymphopenia, Scoliosis, Intention tremor OMIM:158350
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Brain abscess OMIM:616482
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
2Q31.1 Microdeletion Syndrome
Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis, Cerebral cor... ORPHA:251014
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait ataxia, Slender b... ORPHA:457359
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:617602
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Cachexia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Ab... ORPHA:800
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma OMIM:251260
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Small for gestational age, Kyphosis, Scoliosis, Failure to thrive, Abnormality... ORPHA:464306
Prader-Willi Syndrome
Failure to thrive in infancy, Kyphosis, Poor gross motor coordination, Obesity, Poor fine motor c... OMIM:176270
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, T lymphocytopenia, Abnormal B cell mo... OMIM:618223
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Distal Triplication 15Q
Kyphosis, Scoliosis, Large for gestational age ORPHA:314588
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Scoliosis, Cerebral atrophy ORPHA:464738
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Alstrom Syndrome
Kyphosis, Truncal obesity, Scoliosis OMIM:203800
Distal Renal Tubular Acidosis
Hemolytic anemia, Failure to thrive, Paralysis ORPHA:18
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:280
Noonan Syndrome 14
Kyphosis, Lymphopenia, Short neck OMIM:619745
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Epileptic spasm, Involuntary movements, Delayed myelination, Seizur... ORPHA:438213
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Ogden Syndrome
Generalized-onset seizure, Torticollis, Hypertonia, Bilateral tonic-clonic seizure OMIM:300855
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:1969
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Leukodystrophy OMIM:601539
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Classic Homocystinuria
Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis ORPHA:394
Glycogen Storage Disease Ii
Abnormal CNS myelination, Diaphragmatic paralysis OMIM:232300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Abnormal central motor function, Glioma, Cerebellar glioma, Kyphosis, ... ORPHA:97685
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, Failure to thrive ORPHA:398069
Atelis Syndrome 2
Sacral dimple, Kyphosis, Dysmetria, Anemia, Thrombocytopenia OMIM:620185
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive OMIM:239000
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Delayed CNS myelination, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:620330
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis ORPHA:2215
Neurofibromatosis Type 1
Astrocytoma, Ataxia, Kyphosis, Chronic myelogenous leukemia, Pheochromocytoma, Plexiform neurofib... ORPHA:636
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Holoprosencephaly 14
Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure OMIM:619895
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Say-Barber-Miller Syndrome
Babinski sign, Optic atrophy, Ankle clonus, Lower limb hypertonia, Spastic paraparesis ORPHA:3132
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Failure to thrive, Scoliosis OMIM:618050
Tetrasomy 9P
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria ORPHA:3310
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Optic atrophy,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Optic atrophy,... ORPHA:363958
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Tyrosinemia, Type I
Splenomegaly, Failure to thrive, Anemia, Periodic paralysis OMIM:276700
Gitelman Syndrome
Focal-onset seizure, Paralysis ORPHA:358
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Delayed CNS myelination, Short neck, Kyphosis, Hypertonia, Scoliosis OMIM:619194
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Anterior clef... OMIM:265000
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Zttk Syndrome
Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis, Spasticity, Failure to thrive OMIM:617140
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Scoliosis, Slender build OMIM:300967
Hartsfield Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:615465
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Large for gestational age, Short neck ORPHA:77301
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Leukodystrophy OMIM:619575
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, Scoliosis, Biconcave verteb... ORPHA:955
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Mend Syndrome
Kyphosis, Sacral dimple, Hypertonia, Failure to thrive OMIM:300960
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis OMIM:619123
Tsh-Secreting Pituitary Adenoma
Tremor, Seizure, Periodic hypokalemic paresis ORPHA:91347
Mend Syndrome
Kyphosis, Sacral dimple, Failure to thrive, Limb hypertonia ORPHA:401973
1P36 Deletion Syndrome
Kyphosis, Abnormality of the spleen, Hemiplegia/hemiparesis, Optic atrophy, Spinal canal stenosis... ORPHA:1606
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Sotos Syndrome
Astrocytoma, Bilateral tonic-clonic seizure, Tremor, Poor coordination, Generalized non-motor (ab... ORPHA:821
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
Osteogenesis Imperfecta
Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Vertebral compression fracture, A... ORPHA:666
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Involuntary movements, Myoclonus, Kyphoscoliosis ORPHA:3063
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis ORPHA:818
Marden-Walker Syndrome
Kyphosis, Failure to thrive, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... ORPHA:3042
Stickler Syndrome
Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral... ORPHA:828
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Paresthesia ORPHA:285
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Mucolipidosis Type Ii
Splenomegaly, Kyphosis, Weight loss, Hepatosplenomegaly ORPHA:576
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1507
Oculocerebrorenal Syndrome Of Lowe
Clonus, Kyphosis, Anemia, Platyspondyly, Scoliosis, Failure to thrive, Thrombocytopenia ORPHA:534
Cdags Syndrome
Kyphosis OMIM:603116
Cowden Syndrome
Kyphosis, Failure to thrive, Ataxia, Scoliosis ORPHA:201
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Epicanthus, Exaggerated startle response, Telecanthus, Narrow palpebral fissure, Downslanted palp... OMIM:619522
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Platyspondyly, Abnormality of the vertebral column, Subcortical cerebral atrophy, Cereb... ORPHA:2273
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Acute leukemia, Vertebral segmentation defect, Scoliosis, Sp... ORPHA:2911
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Abn... ORPHA:434179
Degcags Syndrome
Abnormal eyebrow morphology, Small for gestational age, Abnormal eyelash morphology, Synophrys, L... OMIM:619488
Rabson-Mendenhall Syndrome
CNS demyelination ORPHA:769
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Facial palsy, Scoliosis ORPHA:2658
Williams Syndrome
Sacral dimple, Ataxia, Involuntary movements, Failure to thrive in infancy, Hyperlordosis, Atroph... ORPHA:904
Marfan Syndrome
Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Abnormal ... OMIM:194190
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Microphthalmia, Syndromic 2
Seizure, Spastic paraparesis OMIM:300166
Coffin-Lowry Syndrome
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis OMIM:303600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Coffin-Siris Syndrome 1
Sacral dimple, Delayed CNS myelination, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta OMIM:135900
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Failure to thrive, Scoliosis OMIM:309000
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Primrose Syndrome
Ataxia, Kyphosis, Irregular vertebral endplates, Truncal obesity, Posterior scalloping of vertebr... OMIM:259050
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99228
Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:881
Acromegaly
Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:314769
Alström Syndrome
Incoordination, Ataxia, Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular... ORPHA:64
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Proteus Syndrome
Thymus hyperplasia, Cachexia, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scol... ORPHA:744
Wrinkly Skin Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:278250
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Viss Syndrome
Kyphosis, Hypereosinophilia, Scoliosis, Failure to thrive, Butterfly vertebrae OMIM:619472
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Facial palsy, Short neck OMIM:113620
Yunis-Varon Syndrome
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... OMIM:216340

Histopathology

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

There is no histopathology data for Plp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plp1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Myelin dysfunction drives amyloid-β deposition in models of Alzheimer's disease. Nature (May 2023) Plp1tm1c(EUCOMM)Wtsi PMC10247380
Inventories of naive and tolerant mouse CD4 T cell repertoires reveal a hierarchy of deleted and diverted T cell receptors. Proceedings of the National Academy of Sciences of the United States of America (August 2019) Plp1tm1c(EUCOMM)Wtsi PMC6744931
Maintenance of high proteolipid protein level in adult central nervous system myelin is required to preserve the integrity of myelin and axons. Glia (January 2019) Plp1tm1c(EUCOMM)Wtsi 30637801
Epitope-Specific Tolerance Modes Differentially Specify Susceptibility to Proteolipid Protein-Induced Experimental Autoimmune Encephalomyelitis. Frontiers in immunology (November 2017) Plp1tm1c(EUCOMM)Wtsi PMC5684123
Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2. Glia (August 2017) Plp1tm1c(EUCOMM)Wtsi Plp1tm1a(EUCOMM)Wtsi 28836307
Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nature methods (June 2009) Plp1tm1a(EUCOMM)Wtsi PMC3555078

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MGI Allele Allele Type Produced
Plp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Plp1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Plp1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Plp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Plp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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