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Gene: Trim67 MGI:3045323

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tripartite motif-containing 67
Synonyms:
D130049O21Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Trim67 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 Trim67 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Postural tremor, Basal ganglia calcification, Chorea, Hand tremor, Depres... OMIM:615483
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... ORPHA:500166
Coasy Protein-Associated Neurodegeneration
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, E... ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Hypoesthesia, Chorea, Basal ganglia calcification, Dysmetria, Thalamic calcification, Dys... OMIM:618317
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Basal ganglia calcification, Limb ataxia, Thalamic calcification, Limb dyst... OMIM:618824
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Abnormal putamen morphology, T2 hypointense thal... ORPHA:157846
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depressio... ORPHA:254881
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Demen... OMIM:618193
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Leukoencephalopathy, Hand tremor, Depression, Lateral ventricle dilatation, Dementia, Dys... OMIM:615889
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Ataxia, Microcephaly, Attention deficit hyperactivity disorder, Abnormality of ... ORPHA:467166
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Delayed early-childhood social milestone development, Si... ORPHA:300570
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Cach Syndrome
Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, Dysmetria, Limb atax... ORPHA:135
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... OMIM:620317
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Dystonia ORPHA:599373
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, T2 hypointense thalamus, Cerebral atrophy, Gait ataxia, Dementia, Cognitive impairment, H... ORPHA:1947
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ... OMIM:620315
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Leukoencephalopathy, Focal T2 hyperintense thalamic le... OMIM:613724
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Ataxia, Dystonia OMIM:618276
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormal basal ganglia morphology, Dystonia OMIM:618646
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Focal T2 hyperintense th... ORPHA:79264
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Progressive neurologic deterioration, Dysplastic corpus ca... OMIM:252650
Alexander Disease Type I
Ataxia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter mor... ORPHA:363717
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Cerebral atrophy, Leukoencephalopathy, Frontal lobe... OMIM:221770
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tremor, Hypoesthesia, Dysplastic corpus callosum, Secondary microce... OMIM:619737
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions ORPHA:557003
Central Neurocytoma
Pain insensitivity, Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Hydroc... ORPHA:73256
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... ORPHA:70595
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the corpus callo... OMIM:619072
Aceruloplasminemia
Torticollis, Abnormal corpus striatum morphology, Ataxia, Tremor, Chorea, Abnormal thalamic MRI s... ORPHA:48818
New-Onset Refractory Status Epilepticus
Abnormal basal ganglia MRI signal intensity, Confusion, Abnormal thalamic MRI signal intensity, C... ORPHA:363558
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr... ORPHA:309246
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Confusion, Di... ORPHA:83597
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Hypointensity of cerebral white matter on MRI... ORPHA:845
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Ataxia, Lateral ventricle dilatation, Secondary microcephaly,... OMIM:617854
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Abnormal thalamic MRI signal intensity, Distal sensory impairment, Abnormal cerebral whit... ORPHA:254930
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume OMIM:613668
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Abnormal substantia nigra morphology, Ataxia, Hyperintensity of cerebral wh... ORPHA:2822
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Microcephaly, Diffuse white matter abnormalities, Hyd... ORPHA:370959
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Depression, Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Dystonia ORPHA:306669
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum, Gait ataxia ORPHA:488635
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy... ORPHA:79243
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Progressive ... ORPHA:506
Japanese Encephalitis
Abnormal substantia nigra morphology, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor,... ORPHA:79139
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity, Cognitive im... ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
3P25.3 Microdeletion Syndrome
Ataxia, Cerebral white matter atrophy, Abnormal thalamus morphology, Attention deficit hyperactiv... ORPHA:435638
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Limb ataxia, Hand tremor, Lateral ventricle... OMIM:607596
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Colpocephaly, Hypoplasia ... OMIM:616034
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus callosum ORPHA:401815
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Ch... ORPHA:2524
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation ORPHA:101071
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Attention deficit hyperactivity disorder ORPHA:404440
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Paresthesia, Cognitive impairment, Microcephaly ORPHA:2959
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Irritability, Abnormal caudate nucleus morphology, Lateral ventric... ORPHA:2148
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Opisthotonus, Irritability, Colpocephaly, Secondary microce... OMIM:620352
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly OMIM:618266
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Microcephaly, Chorea, Irritability, Hypoplasi... OMIM:617864
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr... OMIM:619517
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Emotional lability, Pituitary hypothyroidism, Decreased respons... OMIM:614963
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Dysplastic corpus callosum, Athetosis, S... ORPHA:357058
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Frontotemporal dementia, Lateral ventricle dilatation, Progressive langu... OMIM:607485
Rhombencephalosynapsis
Septo-optic dysplasia, Ataxia, Hydrocephalus, Fusion of the left and right thalami, Ventriculomegaly ORPHA:59315
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity ORPHA:309155
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema ORPHA:88619
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:618736
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Meningioma
Enlarged pituitary gland, Ataxia, Hypothalamic hypothyroidism, Neoplasm of the anterior pituitary... ORPHA:2495
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... ORPHA:544488
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Attention deficit hyperactivity disorder OMIM:618929
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly ORPHA:77299
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebral calcification, Ventriculomegaly, Microcephaly, Basal gangl... OMIM:617281
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Microcephaly, Hydrocephalus, Irritability, Colpocephaly, Periventricular leukomalacia, Th... OMIM:619833
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation... ORPHA:208447
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... ORPHA:488627
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished abi... OMIM:612863
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:616602
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypoplasia of the corpus c... ORPHA:284417
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Caudate atrophy, Ventriculomegaly, Reduce... OMIM:615574
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Cerebral atrophy, Dementia, Dystonia OMIM:272750
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Hydranencephaly
Ventriculomegaly, Thalamic edema, Opisthotonus, Cerebral cortical atrophy, Primary microcephaly, ... ORPHA:2177
Bickerstaff Brainstem Encephalitis
Ataxia, Confusion, Dysesthesia, Impaired proprioception, Abnormal thalamic MRI signal intensity, ... ORPHA:79138
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Ataxia, Lateral ventricle dilatation, T... OMIM:608629
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Microcephaly, Co... OMIM:609053
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Leg dystonia, Cerebral at... ORPHA:565624
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Gait ataxia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dandy... OMIM:618606
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Holoprosencephaly 5
Lateral ventricle dilatation, Hydrocephalus, Microcephaly OMIM:609637
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dystonia, Thin cor... OMIM:614105
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal basal ganglia MRI signal intensity, Secondary microcephaly, Abnormal thalamic MRI signal... ORPHA:485421
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukoencephalopathy, Athet... ORPHA:572798
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... OMIM:617296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Lissencep... OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Ventriculomegaly, Abnormal cortical gyration, Cessation of head gro... OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Ataxia, Microcephaly, Dystonia ORPHA:438216
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia, Irritability, Secondary microcephaly, Abnormal periventricu... OMIM:616881
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Secondary microcephaly, Dilated fourth ventricle, Hypoplasi... OMIM:619306
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:420179
Holoprosencephaly 7
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Panhypopituitarism, Fusion ... OMIM:610828
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:617751
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Microcephaly, ... ORPHA:168577
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ... OMIM:617260
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Dystonia, Age... OMIM:614924
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Distal sensory impairment OMIM:256850
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... ORPHA:314621
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... OMIM:620113
Amoebiasis Due To Free-Living Amoebae
Ataxia, Confusion, Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abnormal ... ORPHA:68
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo... ORPHA:1855
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Slc35A2-Cdg
Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb... ORPHA:356961
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:610015
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Abnormality of the dien... ORPHA:2570
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cere... OMIM:618291
Glutaric Acidemia I
Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia OMIM:231670
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia, Impaired temperature... OMIM:268800
Cerebrofacioarticular Syndrome
Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:314679
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Secondary micro... OMIM:618056
Choreoacanthocytosis
Caudate atrophy, Chorea, Limb dystonia, Laryngeal dystonia, Small basal ganglia, Impaired vibrato... ORPHA:2388
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... OMIM:620075
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Microcephaly, Tremor, Lateral ventricle dilatation, Secondary micro... OMIM:619229
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Opisthotonus, Lateral ventricle dilatation, Limb dystonia, Primar... OMIM:619847
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly ORPHA:3078
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hypoplasia of the corpus callosum, Depression OMIM:620114
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Low frustration ... ORPHA:457279
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Hydrocephalus, Lateral ventricle dilatation, Attention deficit hyperactivit... OMIM:619575
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Absent septum pellucidum, Abnormal basal ganglia morphology, Lateral ventricle ... ORPHA:397715
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Craniopharyngioma
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal... ORPHA:54595
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly OMIM:617397
Gabriele-De Vries Syndrome
Tremor, Cortical dysplasia, Lateral ventricle dilatation, Attention deficit hyperactivity disorde... OMIM:617557
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Intention tremor OMIM:619995
Distal Deletion 10Q
Ataxia, Microcephaly, Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Cav... ORPHA:96148
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... ORPHA:464738
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten... OMIM:618820
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology ORPHA:464321
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Cerebral atrophy, Diffuse leuk... OMIM:619487
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Microcephal... ORPHA:177907
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Cerebral white matter atrophy, Abnormal cortical gyration, Microcep... ORPHA:521426
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Microcephaly, Irritability, Lateral ventricle dilatation, Hypoplasi... OMIM:618367
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Lateral ventricle dilatati... ORPHA:263487
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618914
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes OMIM:300607
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Cerebral cortical atrophy, Microcephaly OMIM:618201
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly OMIM:617301
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypoplasia of the frontal lobes ORPHA:163985
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Peroxisome Biogenesis Disorder 5A (Zellweger)
Macrogyria, Athetosis, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Polymicrogyria OMIM:614866
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:261250
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Lenz-Majewski Hyperostotic Dwarfism
Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callo... OMIM:151050
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Aicardi Syndrome
Microcephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cy... OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Tremor, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst OMIM:300967
White-Kernohan Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder OMIM:619426
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Cerebral cortical atrophy, Dysgyria OMIM:620327
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Progressive neurologic deterioration, Microcephaly, Partial agenesis ... OMIM:210710
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Ataxia ORPHA:2720
Mosaic Trisomy 1
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum ORPHA:1692
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Microcephaly, Ataxia, Dystonia OMIM:620083
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, T2 hypointense basal ganglia, Diffuse whi... ORPHA:79255
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Anterior pituitary hypoplasia, Shyness, Dysplastic corpus callosum, Hypoplasia of the cor... ORPHA:466791
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus callosum, Ventricul... OMIM:619479
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Irritability, Lateral ventric... OMIM:615873
6Q Terminal Deletion Syndrome
Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of th... ORPHA:75857
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly ORPHA:2165
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Agenesis of corpus callosum, Colpocephaly, Microcephaly OMIM:301043
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly, Microcephaly OMIM:618460
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Social and occupational de... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Social and occupational de... ORPHA:353277
Zttk Syndrome
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypoplasia of the corpus c... OMIM:617140
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, C... OMIM:270400
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Microcephaly, Dysplastic corpus callosum, ... OMIM:613406
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:477993
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white m... ORPHA:500150
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly, Opisthotonus OMIM:614098
Williams Syndrome
Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Tremor, Microcephaly, Abnormalit... ORPHA:904
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:619869
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Hypoplasia of the corpus callosum ORPHA:369950
Chromosome 1P36 Deletion Syndrome, Distal
Microcephaly, Pachygyria, Hydrocephalus, Leukoencephalopathy, Lateral ventricle dilatation, Hypop... OMIM:607872
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Absent septum pellucidum, Abnormality of the anterior pituitary, Hy... ORPHA:438213
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum OMIM:606170
Norrie Disease
Microcephaly, Irritability, Attention deficit hyperactivity disorder, Abnormality of the dienceph... ORPHA:649
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly OMIM:300896
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder, Microcephaly OMIM:619522

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 Trim67

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 Trim67.

No publications found that use IMPC mice or data for Trim67.

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