Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
a disintegrin and metallopeptidase domain 22
Synonyms:
MDC2,  2900022I03Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Adam22 mutations

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

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

The table below shows human diseases associated to Adam22 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 61
Spasticity, Seizure OMIM:617933

The table below shows human diseases predicted to be associated to Adam22 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... OMIM:607734
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Cavitating leukodystrophy, Ataxia, Seizure OMIM:619061
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... ORPHA:401840
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Inability to walk, Tetraplegia, Delayed myelination, Seizure, Status epilepticus OMIM:618331
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... OMIM:601098
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Symmetrical progressive peripheral demyelination, Demyelinating... ORPHA:208981
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Segmental peripheral demyelination, Onion bulb ... OMIM:606483
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Peripheral demyelination, Optic atrophy OMIM:165200
Leukodystrophy, Hypomyelinating, 13
Ataxia, Leukodystrophy, Failure to thrive, Spasticity, Clonus, Delayed myelination, Hypertonia OMIM:616881
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Periventricular Nodular Heterotopia 8
Delayed myelination, Spasticity, Seizure OMIM:618185
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Spasticity, Delayed myelination, Seizure, Difficulty walking OMIM:617393
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, ... OMIM:614895
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor neuropathy OMIM:182815
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldings, Onion bulb formation, D... OMIM:118200
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Microcephaly 19, Primary, Autosomal Recessive
Delayed myelination, Decreased body weight, Spasticity, Failure to thrive in infancy OMIM:617800
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... OMIM:118220
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Decreased ner... ORPHA:280234
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination, Abnormal nerve conduc... ORPHA:2932
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Gait ataxia, Generalized n... OMIM:617831
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Developmental And Epileptic Encephalopathy 34
Abnormal pyramidal sign, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:616645
Dravet Syndrome
Abnormal pyramidal sign, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Subacute Inflammatory Demyelinating Polyneuropathy
Axonal loss, Diffuse peripheral demyelination, Peripheral demyelination, Symmetric peripheral dem... ORPHA:206594
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Seizure, Impaired tandem gait, Delayed CNS my... OMIM:300423
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Limb tremor, Abnormal myelin... ORPHA:401820
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Decreased nerve conduction velocity, Decreased motor nerve con... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Gen... OMIM:618587
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy OMIM:311070
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Small for gestational age, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:245570
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:145900
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tremor OMIM:618425
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Seizure, Status epilepticus, Spastic diplegia OMIM:617830
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration... OMIM:605588
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor OMIM:615127
Benign Familial Infantile Epilepsy
Focal motor seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:306
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Stereotypical hand wringing, Bilateral tonic-clonic sei... OMIM:616056
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Decr... OMIM:609311
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Abnormal upper motor neuron morphology, Peripheral demyelination, Axonal loss OMIM:221770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia OMIM:613721
Episodic Ataxia, Type 9
Tonic seizure, Seizure, Bilateral tonic-clonic seizure, Clonic seizure, Episodic ataxia, Status e... OMIM:618924
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onio... OMIM:604563
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Episodic Ataxia, Type 5
Atypical absence seizure, Ataxia, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:613855
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Spasticity, Abnormal myelination, Babinski sign ORPHA:431329
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Demyelinating peripheral neuropathy, Motor conduction block, Decreased ... ORPHA:99953
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Spasticity, Clonus, Gliosis, Delayed myelination, Status epilepticus OMIM:614959
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Krabbe Disease
Peripheral demyelination, Decreased nerve conduction velocity, Failure to thrive, CNS demyelinati... OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of peripheral... OMIM:609260
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Bilateral tonic-clonic ... OMIM:104290
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Decreased body weight, Peripheral demyelination OMIM:617672
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Chronic axonal neuropathy,... ORPHA:101097
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Peripheral demyelination, Optic atrophy OMIM:618237
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Abnormal ... ORPHA:401830
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610100
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus OMIM:619191
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure, Bradyk... ORPHA:36387
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Ataxia, Leukodystrophy, Failure to thrive, Spasticity, Myoclonus, Tremor OMIM:616494
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607706
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure, Hypertonia OMIM:269720
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral... OMIM:604484
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Paresthesia,... ORPHA:53583
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Choreoathetosis, Focal hemiclonic seizure, Myoclonic absence se... OMIM:619317
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Gliosis, Failure to thrive, Peripheral demyelination, CNS demyelination OMIM:220111
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Inability to walk, Lower limb spasticity, Ataxia, Seizure, Generalized myoclonic seizure... OMIM:616756
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (wit... ORPHA:289266
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Myoclonus, S... OMIM:619065
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Ataxia, Generalized myoclonic-atonic seizure, Failure to thrive, Spasticity, B... OMIM:619701
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Peripheral axonal at... OMIM:600882
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Bilateral tonic-clonic seizure, B... OMIM:618093
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus, Tremor OMIM:613608
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination, Spasticity, Seizure OMIM:617613
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Involuntary movements, Ataxia, Spasticity, Delayed myelination, Multifocal seizures, Status epile... OMIM:615905
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Focal-onset seizure, Paraparesis, Spasticity, Progr... ORPHA:726
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Small for gestational age OMIM:616733
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk, Lower limb spasticity OMIM:619639
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Postural tremor, Gait di... ORPHA:100988
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy OMIM:615035
Pontocerebellar Hypoplasia, Type 2D
Spastic tetraplegia, Clonus, Chorea, Delayed myelination, Seizure OMIM:613811
X-Linked Intellectual Disability, Hedera Type
Action tremor, Frequent falls, Dysmetria, Atonic seizure, Apraxia, Extrapyramidal muscular rigidi... ORPHA:93952
Landau-Kleffner Syndrome
Atypical absence seizure, Frequent falls, Focal myoclonic seizure, Steppage gait, Speech apraxia,... ORPHA:98818
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Optic atrophy OMIM:258650
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral demyelination, Axonal degeneration, Decreased motor ne... OMIM:604168
Myoclonic Epilepsy Of Infancy
Poor hand-eye coordination, Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, F... ORPHA:86909
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Generalized myoclonic seizure, Rigidity, Clonus, Gliosis, Delayed myelination, ... OMIM:614498
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Dysmetria, Atonic seizure, Apraxia, Inability to walk, Gait ataxia, Spasticity... OMIM:617810
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bradykinesia, Generalized myoclonic seizure, Ataxia, Rigidity, Bilater... OMIM:617836
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Focal-onset seizure, Delayed CNS myelination, Bilateral tonic-clonic seizure... OMIM:619301
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysmetria, Spastic dysarthria, Spastic paraparesis, Generalized myoclonic seizure, Demyelinating ... ORPHA:313772
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Irregular myelin loops OMIM:601382
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Clumsiness, Bilateral tonic-clonic seizure OMIM:610003
Obesity, Hyperphagia, And Developmental Delay
Delayed myelination, Obesity, Seizure OMIM:613886
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus OMIM:609056
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Stereotypical hand wringing, Inability to walk, Focal-onset seizure, Febrile seizu... OMIM:618917
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Delayed CNS myeli... OMIM:619606
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic seizure, ... ORPHA:101071
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity, Delayed ... OMIM:619725
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Delayed peripheral myelination, Obesity, Lower limb spasticity, A... ORPHA:464282
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Paroxysmal dyskinesia, Chorea, Bilateral tonic-clonic seizure, General... ORPHA:79137
Foxg1 Syndrome
Decreased body weight, Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Inability ... ORPHA:561854
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Spasticity, Dysdiadochokin... OMIM:614487
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Inability to walk, Seizure OMIM:618324
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Unsteady gait, Gait ataxia, Rigidity, Bilateral tonic-clonic seizure, Falls OMIM:203740
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... OMIM:607831
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Paresthesia, Focal impaired awareness sei... ORPHA:98820
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Focal myoclonic seizure, Febrile seizure (withi... ORPHA:263516
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Infantile Cerebellar-Retinal Degeneration
Decreased body weight, Athetosis, Ataxia, Demyelinating peripheral neuropathy, Focal-onset seizur... OMIM:614559
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Focal-onset seizure, Delayed CNS myelination, Bilateral tonic-clonic seizure... OMIM:619302
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Focal impaired aw... ORPHA:330050
Folinic Acid-Responsive Seizures
Spastic tetraparesis, Atonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia, ... ORPHA:79097
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Pseudobulbar paralysis OMIM:300388
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Generalized myoclonic seizure, Athetosis, Ataxia, Progressive extrapyramidal move... ORPHA:382
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Gait ataxia, Delayed myelination, Seizure, Unsteady gait OMIM:618158
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Lower limb spasticity, Ataxia, Failure to thrive, Dystonic gait, Cerebral hypo... ORPHA:280210
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Neurodevelopmental Disorder With Spasticity And Poor Growth
Intention tremor, Failure to thrive, Spasticity, Clonus, Oculomotor apraxia, Delayed myelination,... OMIM:618076
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Ataxia, Delayed CNS myelination, Bilateral tonic-clonic seizure, G... OMIM:271980
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, Generalized tonic seizure... OMIM:612164
Microcephaly 10, Primary, Autosomal Recessive
CNS hypomyelination, Small for gestational age, Spasticity, Gliosis, Delayed myelination, Hypertonia OMIM:615095
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619157
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Delayed ... ORPHA:3006
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Generalized myoclonic seizure, Ataxia, Focal-onset seizure, Bilateral tonic-clonic... ORPHA:352582
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Unsteady gait, Progressive cerebellar ataxia, Chorea, Generalized non-moto... ORPHA:485350
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased nerve conduction velocity ORPHA:101082
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Ataxia, Seizure, Unsteady gait, Status epilepticus, Failu... ORPHA:442835
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Motor stereotypy, Generalized-onset seizur... ORPHA:178469
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Seizure, Pseudobulb... ORPHA:208441
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, G... ORPHA:208447
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Spasticity, Seizure, Difficulty walking ORPHA:101685
Tangier Disease
Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination OMIM:205400
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Seizure ORPHA:85179
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Broad-based gait, Delayed myelination, Seizure, Myoclonus OMIM:616158
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Severe demyelination of the white matter, Gait ataxia, Bilateral tonic-clonic seizure, Gait imbal... ORPHA:488635
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Spasticity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:616281
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Spasticity, Spastic hemiparesis, Gen... OMIM:619616
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Decreased sensory nerve conduction velocity OMIM:609033
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-clonic seiz... OMIM:619605
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Seizure, Gait ataxia, Spasticity, Oculomotor apraxia, Bilateral tonic-clonic seizure, ... ORPHA:529665
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Developmental And Epileptic Encephalopathy 17
Delayed myelination, Generalized tonic seizure, Athetosis, Chorea OMIM:615473
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Dysmetria, Intention tremor, Ataxia, Tongue fasciculations, Generalized non-motor (absence) seizu... OMIM:618170
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Spastic paraparesis, Focal motor seizure, Bilateral tonic-clonic seizure... OMIM:619338
Severe Canavan Disease
Inability to walk, Spasticity, Decerebrate rigidity, Bilateral tonic-clonic seizure, Babinski sig... ORPHA:314911
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Astrocytosis, Fasciculations, Upper motor neuron dysfunction, Gait disturbance,... ORPHA:275864
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
D-Glyceric Aciduria
Opisthotonus, Spastic tetraplegia, Failure to thrive, Delayed myelination, Seizure, Myoclonus OMIM:220120
Lissencephaly 8
Abnormal myelination, Spasticity, Seizure OMIM:617255
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Overweight, Gait disturbance, Gliosis, Bilateral tonic-clonic seizure, Upper li... ORPHA:457240
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Onion bulb formation, Axonal degeneration, Decreased number of pe... OMIM:302800
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Hemiplegia, Focal-onset seizure, Spastic tetraplegia OMIM:614483
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Choreoathetosis, Spasticity, Chorea, Delayed myelination, Babinski sign, Seizure OMIM:618451
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Opisthotonus, CNS hypomyelination, Choreoathetosis, Inability to walk, Limb hypert... OMIM:619580
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Limb hypertonia, Failure to thrive, Focal impaired awareness seizure, Delayed ... ORPHA:488613
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Hereditary Methemoglobinemia
Small for gestational age, Spastic tetraplegia, Athetosis, Spasticity, Cerebral hypomyelination, ... ORPHA:621
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased sensory nerve conduction velocity, Axonal degeneration/regenerati... OMIM:218000
Developmental And Epileptic Encephalopathy 51
Abnormal pyramidal sign, Inability to walk, Failure to thrive, Delayed myelination, Babinski sign... OMIM:617339
Developmental And Epileptic Encephalopathy 44
Athetosis, Failure to thrive, Spasticity, Delayed myelination, Seizure OMIM:617132
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Head tremor, Bilateral tonic-clonic seizure with focal o... OMIM:619428
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Seizure ORPHA:352682
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... ORPHA:99948
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Difficulty walking, Truncal ataxia, Waddling gait, Bilateral tonic-clonic seizure ORPHA:369840
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Peripheral demyelination, Axonal loss OMIM:252160
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Ataxia, Spasticity, Delayed myelination, Seizure, Hypertonia OMIM:608885
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Spasticity, Exaggerated startle response, Delayed myelination, Seizure OMIM:618367
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Motor stereotypy, Inability to walk, Generalized myoclonic se... ORPHA:168491
Sarcosinemia
Tetraparesis, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Delayed myelination, Seizure, Myoclonus OMIM:617235
Metachromatic Leukodystrophy
Peripheral demyelination, Optic atrophy, Decreased nerve conduction velocity OMIM:250100
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Athetosis, Rigidity, Gait disturbance, Delayed myelination, Seizure, Myoclonus OMIM:618241
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abnormal pyramidal sign, Somatic sensory dysfunction, Rigidity, Spasticity, Hemiparesis, Gait dis... ORPHA:199354
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Decreased number of peripheral myelinated nerve fibers OMIM:604360
Glutaric Acidemia I
Failure to thrive, Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Limb hypertonia, Focal-onset seizure, Focal impaired awareness se... OMIM:301058
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Peripheral demyelination, Dysmyelinating leukodystrophy, Myelin outfoldi... OMIM:609136
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Frequent falls, Spastic tetraplegia, Inability to walk, Generalized myoclonic seizure, Ataxia, Un... ORPHA:1947
Lafora Disease
Atypical absence seizure, Atonic seizure, Inability to walk, Bilateral tonic-clonic seizure with ... ORPHA:501
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Tremor OMIM:607876
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ... OMIM:256850
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Delayed CNS myelination OMIM:618832
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Small for gestational age, Inability to walk, Ataxia, Cerebellar gliosis, ... ORPHA:79243
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610532
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Peripheral demyelination, Axonal loss OMIM:252150
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:298
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:162400
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Spastic tetraparesis, CNS hypomyelination, Failure to thrive, Cerebral hypomyelination, Bilateral... OMIM:608809
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Decreased number of peripheral myelinated nerve fibers OMIM:256810
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Spastic tetraplegia, Generalized myoclonic seizure, Athetosis, Failure to thrive,... ORPHA:79351
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Impaired tactile sensation, Delayed CNS myelination, Bilateral tonic-c... ORPHA:453510
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnormality of perip... ORPHA:168563
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy, Decreased number of peripheral my... ORPHA:320406
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Decreased sen... OMIM:270550
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, CNS hypomyelination, Inability to walk, Cataplexy, Ataxia, Lower limb spasticity... OMIM:617193
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Generalized myoclonic seizure, Lower limb spasticity, Ataxia, Focal-onset se... ORPHA:395
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:250972
Myoclonic Epilepsy Of Lafora
Apraxia, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal se... OMIM:254780
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Inability to walk, Limb hypertonia, Ataxia, Seizure, Focal myoclonic seizure... ORPHA:481152
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Failure to ... ORPHA:254930
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Loss of ability to walk, Focal-onset seizure, Upper motor neuron ... ORPHA:329308
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Severe demyelination of the white matter, Failure to thrive, Peripheral demyelination, Optic atrophy ORPHA:79282
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Hypoglycemic seizures, Multifocal seizures, Involuntary movements, Generalized my... ORPHA:480864
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Tongue thrusting, Bilateral tonic-clonic seizure with generalized onset... ORPHA:98795
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Obesity, Generalized non-motor (absence) seizure, Bilateral tonic-clon... ORPHA:777
Dk1-Cdg
Focal-onset seizure, Failure to thrive, Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:91131
Early Infantile Epileptic Encephalopathy
Choreoathetosis, Atonic seizure, Generalized clonic seizure, Focal-onset seizure, Seizure, Febril... ORPHA:1934
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Spastic tetraparesis, Limb hypertonia, Severe failure to thrive, Clonus, Bilateral tonic-clonic s... ORPHA:423479
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Limb hypertonia, Neonatal death, Bilate... OMIM:615501
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
Sandhoff Disease
CNS hypomyelination, Fasciculations, Ataxia, Impaired temperature sensation, Upper motor neuron d... OMIM:268800
Angelman Syndrome
Cerebral dysmyelination, Atypical absence seizure, Atonic seizure, Obesity, Inability to walk, At... ORPHA:72
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Axo... OMIM:208920
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hypertonia, Somatic sensory dysfunction, Mixed demyelinating and axonal polyneuropathy, Impaired ... ORPHA:466768
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Astrocytosis, Spastic paraparesis, Bradykinesia, Gait disturbance, Truncal ataxia,... ORPHA:309854
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Generalized myoclonic seizure, Demyelinating pe... ORPHA:255210
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Abnormal pyramidal sign, Spastic tetraparesis... ORPHA:268940
Autosomal Recessive Spastic Paraplegia Type 35
Peripheral demyelination, Optic atrophy ORPHA:171629
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Decreased body weight, Peripheral demyelination, Neurofibromas, Obesity, Overweight, Leukodystrop... OMIM:619475
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Atonic seizure, Stereotypical hand wringing, Generalized myoclonic seizure, Lower ... OMIM:300912
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Atonic seizure, Small for gestational age, Focal tonic seizure, Inability to walk,... ORPHA:404454
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Athetosis, Cerebral palsy, Focal myoclonic seizure, Focal impaired awareness ... ORPHA:369929
Cockayne Syndrome B
Patchy demyelination of subcortical white matter, Small for gestational age, Peripheral dysmyelin... OMIM:133540
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Inability to walk, Limb hypertonia, Generalized myoclonic seizure, Spasticity, ... ORPHA:457351
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Small for gestational age OMIM:619278
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Delayed myelination, Myoclonic spasms, Poor coordination ORPHA:478029
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Febrile seizure (within the age range of 3 m... ORPHA:496641
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Decreased number of large peripheral myelinated nerve fibers, O... ORPHA:101085
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Failure to thrive in infancy, Decreased number of peripheral... ORPHA:477817
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity ORPHA:320375
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Episodic hemiplegi... ORPHA:2131
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Delayed CNS myelination, Spasticity, Generalized non-motor (absence) seizure, ... OMIM:615802
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Focal hyperkinetic seizure, Nocturnal seizures, Bilatera... ORPHA:98784
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Charcot-Marie-Tooth Disease Type 4C
Demyelinating peripheral neuropathy, Decreased number of peripheral myelinated nerve fibers, Decr... ORPHA:99949
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Sensory axonal neuropathy, Peripheral hypomyeli... OMIM:618733
De Sanctis-Cacchione Syndrome
Choreoathetosis, Ataxia, Leukodystrophy, Spasticity, Scissor gait, Bilateral tonic-clonic seizure... OMIM:278800
Cockayne Syndrome A
Patchy demyelination of subcortical white matter, Peripheral dysmyelination, Decreased nerve cond... OMIM:216400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic tetraplegia OMIM:615474
Biotinidase Deficiency
Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Focal motor seizure, Bilateral tonic-... ORPHA:79241
Bohring-Opitz Syndrome
Delayed peripheral myelination, Failure to thrive OMIM:605039
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Motor stereotypy, Lower limb spasticity, Clonus, Cerebral hypomyelination, Bila... ORPHA:447997
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Motor stereotypy, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Monosomy 18Q
Choreoathetosis, Slender build, Poor coordination, Failure to thrive, Abnormal myelination, Seizure ORPHA:1600
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Generalized myoclonic seizure, Ataxia, Failure to thrive, Bilateral tonic-clonic seizure... ORPHA:99885
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Oculomotor apraxia ORPHA:67045
Choreoacanthocytosis
Phonic tics, Hyperkinetic movements, Impaired vibratory sensation, Involuntary movements, Decreas... ORPHA:2388
Developmental And Epileptic Encephalopathy 61
Spasticity, Seizure OMIM:617933
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Myelin outfoldings, Optic atrophy ORPHA:99956
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination, Failure to thrive ORPHA:364577
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Cockayne Syndrome Type 3
Intention tremor, Astrocytosis, Demyelinating peripheral neuropathy, Seizure, Unsteady gait, Abno... ORPHA:90324
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Degcags Syndrome
Abnormal myelination, Failure to thrive, Vocal cord paralysis, Small for gestational age OMIM:619488
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

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 Adam22

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 Adam22.

No publications found that use IMPC mice or data for Adam22.

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MGI Allele Allele Type Produced
Adam22tm367168(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adam22tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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