Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
engrailed 2
Synonyms:
En-2

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 En2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to En2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar atrophy OMIM:615268
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Spinocerebellar Ataxia 37
Dysphagia, Ataxia, Unsteady gait, Cerebellar atrophy OMIM:615945
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Difficulty walking, Cerebellar cortical atrophy, Impaired vibration sen... ORPHA:171622
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia Type 31
Gait ataxia, Cerebellar atrophy, Impaired vibratory sensation ORPHA:217012
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Shyness, Aggressive behavior OMIM:618221
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Distal sensory impairment, Somatic sensory dysfunction, Sciss... ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Impaired distal vibration sensation, Cerebellar atrophy, Spastic gait, Chiari type I malf... OMIM:619742
Dystonia With Cerebellar Atrophy
Dysphagia, Progressive cerebellar ataxia, Cerebellar atrophy OMIM:611694
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy OMIM:615705
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Lichtenstein-Knorr Syndrome
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Unsteady gait, Cerebellar atrophy OMIM:617917
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait, Dysphagia ORPHA:284271
Epilepsy, Progressive Myoclonic 7
Ataxia, Cerebellar atrophy OMIM:616187
Spinocerebellar Ataxia Type 15/16
Ataxia, Gait ataxia, Cerebellar atrophy ORPHA:98769
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Cerebellar atrophy OMIM:614706
Spinocerebellar Ataxia 35
Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Difficulty walking, Cerebellar atr... OMIM:613908
Spinocerebellar Ataxia Type 35
Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Difficulty walking... ORPHA:276193
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Cerebel... ORPHA:98764
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Truncal ataxia, Unsteady gait, Cerebellar atrophy OMIM:616948
Gordon Holmes Syndrome
Ataxia, Cerebellar atrophy OMIM:212840
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Dysmetria, Difficulty... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebellar atrophy OMIM:600143
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Falls,... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Loss of ambulation, Dysmetria, Cerebellar atrophy, Dysphagia OMIM:617916
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy OMIM:613728
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Ataxia OMIM:618876
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:614322
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spinocerebellar Ataxia Type 21
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Gait ataxia ORPHA:98773
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Pontocerebellar atrophy, Dysdiadochokinesis, Unsteady gait OMIM:616053
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy OMIM:302500
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Distal sensory impairment, Cerebellar atrophy OMIM:600223
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Cerebellar ... OMIM:610245
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Cerebellar atrophy OMIM:301020
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Ce... OMIM:605361
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Pontocerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Unsteady gait ORPHA:423275
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Increased... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Increased... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Increased... OMIM:608636
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Dysp... OMIM:607346
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Cerebellar atrophy OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Truncal ataxia, Cerebellar atrophy, Dysphagia OMIM:614229
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Progressive gait ataxia, Cerebellar a... ORPHA:101112
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Cerebellar atrophy OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Gait ataxia, Dysmetria, Cerebellar atrophy OMIM:608029
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Truncal ataxia, Falls, Gait disturbance, Choreoathetosis, Cerebellar atrophy OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Gait ataxia, Cerebellar atrophy, Steppage gait OMIM:618387
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Cerebellar atrophy OMIM:615217
Bilateral Frontoparietal Polymicrogyria
Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Cerebellar ... ORPHA:101070
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Dysmetria, Cerebellar atrophy OMIM:618090
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia OMIM:609306
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysphagia OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 8
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:610743
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Distal sensory impairment, Cerebellar atrophy, Steppage gait OMIM:607250
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Ataxia, Dysmetria, Cerebellar atrophy OMIM:610357
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia, Cerebellar atrophy ORPHA:512260
Behr Syndrome
Gait disturbance, Ataxia, Dysmetria, Cerebellar atrophy OMIM:210000
Ataxia-Oculomotor Apraxia 4
Ataxia, Cerebellar atrophy OMIM:616267
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Chorea ORPHA:385
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Spinocerebellar Ataxia 49
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Cerebellar atrophy, Unsteady gait OMIM:619806
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Limb ataxia, Impaired vibratory sensation, Gait ataxia, Cerebellar atrophy OMIM:609270
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar cy... OMIM:615181
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Dysmetria, Cerebellar atrophy OMIM:615386
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Poor eye contact, Hyperactivity, Tremor, Aggressive behavior OMIM:300983
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... OMIM:617622
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vibratory sensa... ORPHA:284324
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Ataxia, Dysmetria, Cerebellar atrophy OMIM:256731
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Dysmetria, ... OMIM:117360
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Truncal ataxia, Cerebell... OMIM:616127
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Cerebellar atrophy OMIM:606183
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Dilated fourth ventricle, Inferior cere... OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Gait ataxia, Ce... OMIM:616204
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy ORPHA:208513
Lissencephaly Type Iii And Bone Dysplasia
Akinesia, Agenesis of cerebellar vermis OMIM:601160
Huntington Disease
Gait ataxia, Cerebellar atrophy, Chorea OMIM:143100
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:607454
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Gait ataxia, Distal sensory impairment, Cerebellar atrophy OMIM:616719
Spinocerebellar Ataxia 32
Ataxia, Cerebellar atrophy OMIM:613909
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Cerebellar atrophy ORPHA:276183
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Gait disturbance, Cerebellar atrophy, Chronic constipation OMIM:617166
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Cerebellar atrophy OMIM:612020
Spinocerebellar Ataxia 15
Gait ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia OMIM:606658
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Dysmetria, Spastic ataxia, Cerebellar atrophy OMIM:611302
Episodic Ataxia, Type 6
Vomiting, Cerebellar hypoplasia, Truncal ataxia, Nausea, Cerebellar atrophy, Episodic ataxia OMIM:612656
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Impaired vibratory sensation, Dysdiadochokinesis, Gait ataxia, Cerebellar... OMIM:600224
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Cerebellar vermis... OMIM:609583
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Ataxia-Pancytopenia Syndrome
Ataxia, Dysmetria, Impaired vibration sensation in the lower limbs, Distal sensory impairment, Un... OMIM:159550
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar atrophy,... ORPHA:352403
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Ataxia, Dysmetria, Cerebellar atrophy, Dysphagia OMIM:618098
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Di... ORPHA:98772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cere... OMIM:613153
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait disturbance, Gait ataxia, Cerebellar atr... OMIM:617145
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Limb dysmetria, Gait ataxia, Cerebellar atrophy OMIM:605259
Spinocerebellar Ataxia 6
Dysphagia, Progressive cerebellar ataxia, Cerebellar atrophy OMIM:183086
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Truncal ataxia, Gait ataxia, Cerebellar atrophy OMIM:609307
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia OMIM:615924
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia, Dysphagia, Cerebellar cortical... ORPHA:247234
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Hsd10 Disease
Tremor, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior OMIM:300495
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Chorea, Gait ataxia, Dystonia, Irritability... ORPHA:248111
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... ORPHA:240094
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Self-injurious behavior, Chorea, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Unsteady gait, Dysmetria, Cerebellar atrophy OMIM:619405
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Gait ataxia, Dysmetria, Cerebellar atrophy OMIM:614306
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Cerebellar dysplasia OMIM:601374
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Unilateral Focal Polymicrogyria
Mental deterioration, Abnormal nonverbal communicative behavior, Memory impairment, Attention def... ORPHA:268947
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia, Cerebellar atrophy ORPHA:139480
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem OMIM:613612
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Dopa-Responsive Dystonia
Leg dystonia, Agoraphobia, Irritability, Abnormal social behavior, Oculogyric crisis, Anxiety, Pa... ORPHA:255
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar at... OMIM:614575
Early-Onset Schizophrenia
Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of p... ORPHA:96369
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Impaired vibratory sensation, Hypoplasia of the p... ORPHA:98760
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Chorea OMIM:604391
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Progressive language deterioration, Aggressive behavior, Impaired social i... OMIM:610042
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior OMIM:609425
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Gait ataxia, At... ORPHA:98818
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romberg sign, Gait... OMIM:277460
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Semantic dementia, Abnormal social behavior, Memory impairment, Dementia ORPHA:1020
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait ORPHA:391411
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Action tremor, Anxiety, Chorea, Tremor, Aggressive behavior, Impaired social interactions... OMIM:619738
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Encephalocele, Molar toot... OMIM:611134
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Molar toot... OMIM:614175
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, T... OMIM:610688
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar vermis, Cerebellar ... OMIM:617751
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Chorea, Abnormal dentate nucleus morphology, Gait ataxia ORPHA:48818
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Autosomal Dominant Cerebellar Ataxia
Akinesia, Progressive cerebellar ataxia, Pseudobulbar paralysis, Impaired vibratory sensation, Ch... ORPHA:99
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairm... ORPHA:363400
Cln5 Disease
Ataxia, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Anxiety, Truncal atax... ORPHA:228360
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Lack of peer relationships, Tremor, Atte... ORPHA:1942
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioration, Self-mutilation, Men... ORPHA:163681
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Increased... OMIM:608049
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Attention de... OMIM:619827
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:261600
Corticobasal Syndrome
Gait disturbance, Somatic sensory dysfunction, Akinesia ORPHA:454887
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, Chorea, Memory... ORPHA:309271
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Chorea, Gait ataxia, Aggressive behavior, Impaired pain sensation, Dystonia ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Aggressive behavio... ORPHA:3077
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, Progressive ga... ORPHA:309263
47,Xyy Syndrome
Hydrocephalus, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Abnormal brainstem morp... ORPHA:8
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Increased circulating ACTH level, Somatic sensory dysfunctio... ORPHA:43
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Distal sensory impairment, Gait disturbance, Dysphagia OMIM:606693
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness, Dystonia ORPHA:280763
Fetal Akinesia Deformation Sequence
Akinesia, Dandy-Walker malformation ORPHA:994
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Ataxia, Hyperactivity ORPHA:411515
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Poor eye contact, Opisthotonus, Self-mutilation, Gait ataxia, Aggr... OMIM:103050
Parkinson Disease 17
Akinesia OMIM:614203
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Poor eye contact, Self-injurious behavior, Anxiety, Attention deficit hyperactivit... ORPHA:449291
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar hypoplasia, Cerebellar dysplasia, Hypoplasia of the brainstem ORPHA:500159
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Fragile X Syndrome
Hyperactivity, Poor eye contact, Self-biting OMIM:300624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Encephalocele, Cerebellar hypoplasia, Partial absence of cerebellar vermis, Cerebe... OMIM:613150
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Anxiety, Tremor, Shyness, Aggressive behavior OMIM:300978
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia ORPHA:457240
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia, Kinked brainstem, Hypoplasia of the b... OMIM:617822
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Gait ataxia, Progressive gait ataxia, Emotional lability, Dystonia ORPHA:309256
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... OMIM:619306
Postencephalitic Parkinsonism
Dysphagia, Akinesia, Paresthesia, Vomiting ORPHA:97349
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Hyperactivity, Mental deterioration, Anxiety, Motor deterioration, Aggressive behavior, D... ORPHA:168491
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis, Chorea, Gai... OMIM:610217
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Enlarged cerebellum ORPHA:85165
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, Hyperactivity, Aggressive behavior ORPHA:369891
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Chorea, Athetosis, Dystonia ORPHA:52503
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Tremor, Attention deficit hyperactivity disorder, Abnormal agg... ORPHA:96263
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
X-Linked Intellectual Disability, Cilliers Type
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Shyness ORPHA:163971
Choreoacanthocytosis
Laryngeal dystonia, Mental deterioration, Chorea, Limb dystonia, Emotional lability, Bradyphrenia... ORPHA:2388
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Neuromuscular dysphagia, Akinesia, Falls ORPHA:240071
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Mental deterioration, Psychomotor deterioration, Emotional lability, Dystonia ORPHA:35069
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Chorea OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Niemann-Pick Disease Type C
Ataxia, Axial dystonia, Apathy, Abnormal social behavior, Intention tremor, Mental deterioration,... ORPHA:646
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Dandy-Walker malformation, Abnormal midbrain morpho... ORPHA:356961
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia OMIM:619476
Cri-Du-Chat Syndrome
Overfriendliness, Conspicuously happy disposition, Hyperactivity, Self-mutilation, Anxiety, Aggre... OMIM:123450
Perry Syndrome
Akinesia, Short stepped shuffling gait OMIM:168605
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Impaired pain sensation, Gait ataxia OMIM:616579
Arima Syndrome
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... OMIM:243910
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... ORPHA:85327
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Vomiting OMIM:619147
Trichotillomania
Hair-pulling OMIM:613229
49,Xxxxy Syndrome
Overfriendliness, Tremor, Attention deficit hyperactivity disorder, Shyness, Irritability, Low fr... ORPHA:96264
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tolerance OMIM:619293
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Cerebellar hypoplasia, Kinked brainstem, Cerebellar dysplasia, Meningoencephalocel... OMIM:236670
Dpagt1-Cdg
Akinesia, Abnormal cerebellum morphology, Inability to walk, Ataxia, Cerebellar hypoplasia ORPHA:86309
Hereditary Late-Onset Parkinson Disease
Dysphagia, Shuffling gait, Akinesia, Chronic constipation ORPHA:411602
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:616546
Joubert Syndrome 5
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Thickened superior ce... OMIM:610188
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Impaired vibratory sensation OMIM:609727
Gaucher Disease, Perinatal Lethal
Dysphagia, Akinesia OMIM:608013
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... ORPHA:444072
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Luscan-Lumish Syndrome
Anxiety, Shyness, Aggressive behavior OMIM:616831
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
White-Sutton Syndrome
Overfriendliness, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Irritability OMIM:616364
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Attention deficit hyperactivity ... ORPHA:177907
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Pain insensitivity, Hyperactivity, Self-mutilation OMIM:256800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Irritability, Hair-pulling ORPHA:447997
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity... ORPHA:68
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
African Trypanosomiasis
Akinesia, Diarrhea, Myelopathy, Vomiting, Gait disturbance, Somatic sensory dysfunction, Difficul... ORPHA:3385
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Gait disturbance, Choreoathetosis, Dysphagia OMIM:234200
Supranuclear Palsy, Progressive, 2
Dysphagia, Akinesia, Gait imbalance, Falls OMIM:609454
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Monosomy 22Q13.3
Impaired pain sensation, Hyperactivity, Hair-pulling ORPHA:48652
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:79139
Supranuclear Palsy, Progressive, 1
Dysphagia, Akinesia, Gait imbalance, Falls OMIM:601104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Hypoplasia of the br... OMIM:253280
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:401973
Tuberous Sclerosis Complex
Self-injurious behavior, Hyperactivity, Abnormal social behavior, Anxiety, Attention deficit hype... ORPHA:805
1P21.3 Microdeletion Syndrome
Aggressive behavior, Self-injurious behavior, Shyness, Self-mutilation ORPHA:293948
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal nonverbal communicative behavior ORPHA:485421
Trichothiodystrophy
Intention tremor, Gait ataxia, Impaired social reciprocity ORPHA:33364
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperactivity, Trophic limb changes, Self-mutilation, Abnormal emotion/affect... ORPHA:642
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology ORPHA:314621
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Poor eye contact, Shyness OMIM:301030
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:363958
Orofaciodigital Syndrome V
Overfriendliness OMIM:174300
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Intention tremor, Anxiety, Shyness, Aggressive behavior ORPHA:466791
Williams Syndrome
Overfriendliness, Ataxia, Dysmetria, Abnormal social behavior, Anxiety, Tremor, Attention deficit... ORPHA:904
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Anxiety, Abnormal nonverbal communicative behavior, High urinary gonadotropin l... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Anxiety, Abnormal nonverbal communicative behavior, High urinary gonadotropin l... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Anxiety, Abnormal nonverbal communicative behavior, High urinary gonadotropin l... ORPHA:99228
Monosomy X
Hyperinsulinemia, Anxiety, Abnormal nonverbal communicative behavior, High urinary gonadotropin l... ORPHA:99226
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987

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 En2

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 En2.

No publications found that use IMPC mice or data for En2.

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MGI Allele Allele Type Produced
En2tm414058(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
En2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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