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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
Memory impairment, Depression, Hand tremor, Basal ganglia calcification, Chorea, Postural tremor,... OMIM:615483
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Short attention span, Dysplastic corpus callosum, Abnormal cerebral white matte... ORPHA:500166
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat... ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Basal ganglia calcification, Chorea, Dysmetria, Ataxia, ... OMIM:618317
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Generalized dystonia, Basal ganglia calcification, Limb ataxia, Limb dyston... OMIM:618824
Neuroferritinopathy
Blepharospasm, Arm dystonia, Resting tremor, Eye of the tiger anomaly of globus pallidus, Frontal... ORPHA:157846
Spinocerebellar Ataxia With Epilepsy
Depression, Focal T2 hyperintense thalamic lesion, Gait ataxia, Dysmetria, Tremor, Progressive ne... ORPHA:254881
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Memory impairment, Basal ganglia calcification, H... OMIM:618193
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Ventriculomegaly, Abnormality of the internal capsule, Abnor... ORPHA:467166
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Depression, Lateral ventricle dilatation, Hand tremor, Periventricular leuko... OMIM:615889
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli... ORPHA:300573
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morphology, Emotional... ORPHA:300570
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Cach Syndrome
Lateral ventricle dilatation, Cerebral atrophy, Limb ataxia, Dysgyria, Dysmetria, Irritability, T... ORPHA:135
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Stxbp1-Related Encephalopathy
Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia, Dystonia ORPHA:599373
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Abnormal cerebral white matter morphology,... OMIM:620315
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Dystonia, Ataxia OMIM:618276
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion, Head tr... OMIM:613724
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Gait ataxia, T2 hypointense thalamus, Hyperintensity of cerebral white matter o... ORPHA:1947
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormal basal ganglia morphology, Dystonia, Decreased thalamic volume OMIM:618646
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Hydrocephalus, Agen... OMIM:617542
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Focal T2 hyperintense basal ... ORPHA:79264
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Progressive neurologic deterioration, Dystonia, Cerebra... OMIM:252650
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Hydrocepha... ORPHA:363717
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Memory impairment, Lateral ventricle dilatation, Inappropriate behavior, Cer... OMIM:221770
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Decreased response to growth hormone stimulation test ORPHA:502430
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Memory impairment, Secondary microcephaly, Periventricular white ma... OMIM:619737
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions ORPHA:557003
Central Neurocytoma
Pain insensitivity, Depression, Abnormal lateral ventricle morphology, Paresthesia, Cerebral calc... ORPHA:73256
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Memory impairment, Depression, Gait ataxia, Positive Romberg sign, ... ORPHA:70595
Aceruloplasminemia
Blepharospasm, Memory impairment, Abnormal corpus striatum morphology, Chorea, Limb ataxia, Gait ... ORPHA:48818
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the corpus callosum, Microcep... OMIM:619072
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Inappropriate behavior, Abnormal fear-induced beha... ORPHA:309246
Tay-Sachs Disease
Ventriculomegaly, Memory impairment, Depression, Laryngeal dystonia, Short attention span, Hypoin... ORPHA:845
New-Onset Refractory Status Epilepticus
Confusion, Focal T2 hyperintense basal ganglia lesion, Cognitive impairment, Abnormal basal gangl... ORPHA:363558
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo... ORPHA:171680
Acute Disseminated Encephalomyelitis
Mental deterioration, Diffuse white matter abnormalities, Somatic sensory dysfunction, Confusion,... ORPHA:83597
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Distal sensory impairment, Abnormal cerebral white matter morp... ORPHA:254930
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Short attention span, Reduced social recipr... OMIM:617854
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Decreased thalamic volume, Diffuse cerebral atrophy OMIM:613668
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Decreased thalamic volume, Polymicrogyria, ... ORPHA:370959
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Hypothalamic atrophy, Memory impairment, Cerebral cortical atrophy, Lateral... ORPHA:2822
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Lateral ventricle dilatation, Tremor, Cerebral cortical hemiatrophy, Dystonia ORPHA:306669
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus callosum ORPHA:488635
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Abnormal basal ganglia MRI signal intensity, Neuronal los... ORPHA:506
Japanese Encephalitis
Pill-rolling tremor, Abnormal thalamus morphology, Abnormality of the internal capsule, Abnormal ... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cognitive impairment, Abnormal thalamic MRI signal i... ORPHA:444013
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Attention deficit hyperactivity disorder, Abnormal thalamus morpho... ORPHA:435638
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... ORPHA:2185
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus callosum ORPHA:401815
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Hand tre... OMIM:607596
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn... OMIM:617668
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Paroxysmal dysto... ORPHA:2524
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Colpocephaly... OMIM:616034
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Abnormal thalamus morphology ORPHA:404440
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Microcephaly, Paresthesia, Cognitive impairment ORPHA:2959
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Chorea, Short attention span, Hypoplasia of the corpus callosum, Irrit... OMIM:617864
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter mo... OMIM:616900
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Primary microcephaly, Lateral ventricle dilatation, Cerebral atrophy OMIM:618266
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Irritability, Age... OMIM:620352
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dilated fourth ventricle, Dysplastic corpus callosum, Primary microcephal... ORPHA:357058
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle di... OMIM:619517
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Resting tremor, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Emotional lability, Decreased respons... OMIM:614963
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly, Overfriendliness OMIM:618010
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Exaggerated startle response, Abnormal thalamic MRI signal intensity ORPHA:309155
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal thalamus morphology, Abnormal putamen morphology ORPHA:88619
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Memory impairment, Lateral ventricle dilatation, Neurofibrillary tangl... OMIM:607485
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the left and right thalami, Hydrocephalus, Ataxia, Septo-optic dysplasia ORPHA:59315
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... OMIM:613443
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus c... ORPHA:544488
Meningioma
Transient global amnesia, Secondary growth hormone deficiency, Memory impairment, Hypothalamic hy... ORPHA:2495
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618736
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum... OMIM:617281
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Attention deficit hyperactivity disorder, Agenesis of corpus callosum OMIM:618929
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation ORPHA:77299
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly OMIM:614833
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Periventricular leukomalacia, Irritability, Microcephaly, Colpocephaly, Hydroce... OMIM:619833
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Oculogyric crisis, Lateral ventricle dilatation, Hypoplasia o... ORPHA:208447
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated third ventricle, Reduced cerebral white matter volume, Dilated fourth v... OMIM:615574
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Probst bundles, Short attention span, Agenesis of corpus callosum, ... OMIM:612863
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Exaggerated startle response, Dementia, Dystonia OMIM:272750
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia... ORPHA:284417
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern OMIM:620001
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618890
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Attention deficit hyperactivity d... OMIM:619103
Hydranencephaly
Atrophic pituitary gland, Ventriculomegaly, Cerebral cortical atrophy, Abnormal corpus striatum m... ORPHA:2177
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia, Thin corpus callosum, Fro... OMIM:608629
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618619
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Bickerstaff Brainstem Encephalitis
Sensory ataxia, Confusion, Ataxia, Dysesthesia, Abnormal thalamic MRI signal intensity, Impaired ... ORPHA:79138
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Agenesis of corp... OMIM:609053
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Leg dystonia... ORPHA:565624
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Gait ataxia, Hypoplasia of the corpus callosum, Microcephaly, Dandy... OMIM:618606
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Holoprosencephaly 5
Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:609637
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pa... OMIM:619179
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C... OMIM:617296
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Exaggerated st... OMIM:253800
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Dilated fo... ORPHA:572798
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal... ORPHA:485421
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cerebral cortical atrophy, Ventriculomegaly, Abnormal cortical gyration, Cessation of head growth... OMIM:617527
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Short attention span, Microcephaly, Exaggerated startle response, Dystonia ORPHA:438216
Leukodystrophy, Hypomyelinating, 13
Ataxia, Secondary microcephaly, Abnormal periventricular white matter morphology, Irritability, E... OMIM:616881
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Dystonia, Thin cor... OMIM:614105
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Secondary microcephaly, Fusion of the left and right thalami, Dilated fourth ventricle, Hypoplasi... OMIM:619306
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum, Microcepha... OMIM:610828
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Episodic ataxia ORPHA:420179
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus... OMIM:617260
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Polymicrogyria, Dilated fourth ventricle, Hypoplasia of the corpus ... OMIM:617751
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume, Intracerebral periventricular calcifications, Microcephaly, Cerebral w... ORPHA:168577
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal tract morphology, Lateral ventricle dilatation, Distal sensory impairment OMIM:256850
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Microcephaly, Abnormal pituitary gland morphology, Agenesis of ... ORPHA:314621
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Microcephaly, Hydrocephalus OMIM:614219
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... OMIM:608643
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
Slc35A2-Cdg
Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebral white... ORPHA:356961
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:610015
Spondyloenchondrodysplasia
Ventriculomegaly, Decreased response to growth hormone stimulation test, Chorea, Cerebral calcifi... ORPHA:1855
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph... OMIM:620113
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Reduced cerebral white matter volume, Lateral ventricle... OMIM:620371
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcepha... ORPHA:2570
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... OMIM:618291
Glutaric Acidemia I
Lateral ventricle dilatation, Opisthotonus, Hydrocephalus, Dystonia, Choreoathetosis OMIM:231670
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Resting tremor, Limb dystonia, Emotional labi... ORPHA:2388
Amoebiasis Due To Free-Living Amoebae
Abnormal cerebral cortex morphology, Confusion, Abnormal basal ganglia morphology, Irritability, ... ORPHA:68
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Secondary microcephaly, Gait ataxia, Tremor, Dysmetria, Hypoplasia of the cor... OMIM:618056
Sandhoff Disease
Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startle respon... OMIM:268800
Cerebrofacioarticular Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corp... ORPHA:314679
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Lateral ventricle dilatation, Thin corpus callosum, Parieta... OMIM:620075
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Secondary microcephaly, Short attention span, Tre... OMIM:619229
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Limb dystonia, Opisthotonus, Microcephaly, Primar... OMIM:619847
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Hypoplasia of the corpus callosum, Exaggerated startle response OMIM:620114
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Short attention span, Attention deficit hy... OMIM:619575
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cavum septum pellucidum, Low f... ORPHA:457279
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Ventriculomegaly, Dilated third ventricle, Open operculum, L... ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Microcephaly OMIM:617397
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Cerebral calcification, Abnormal ... ORPHA:54595
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormal basal ganglia morphology, Thalamic hemorrhage ORPHA:464321
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Tremor, Attention deficit hyperactivity disorder, Cortical dysplasi... OMIM:617557
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Intention tremor OMIM:619995
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus... ORPHA:464738
Distal Deletion 10Q
Ataxia, Lateral ventricle dilatation, Microcephaly, Attention deficit hyperactivity disorder, Cav... ORPHA:96148
Plaa-Associated Neurodevelopmental Disorder
Leukoencephalopathy, Ventriculomegaly, Abnormal cortical gyration, Hypoplasia of the corpus callo... ORPHA:521426
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Lateral ventricle dilatation, Decreased response to growth hormone sti... ORPHA:177907
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificati... OMIM:619487
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum OMIM:618569
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Irritability, Microcephaly, Exag... OMIM:618367
Cog5-Cdg
Lateral ventricle dilatation, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcepha... ORPHA:263487
Developmental And Epileptic Encephalopathy 8
Hypoplasia of the frontal lobes, Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618914
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Microcephaly, Exaggerated startle response OMIM:618201
Glycine Encephalopathy With Normal Serum Glycine
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum, Exaggerated startle response OMIM:617301
Hyperekplexia-Epilepsy Syndrome
Hypoplasia of the frontal lobes, Exaggerated startle response ORPHA:163985
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Gait ataxia, Microcephaly, Exaggerated startle response, Thin corpus callosum OMIM:620451
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:261250
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Hypoplasia of the corpus callosum, Irritability, Abnormal diffusion weigh... OMIM:620423
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Pachygyria, Athetosis OMIM:614866
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Dysplastic corpus callo... OMIM:151050
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate nucleus morphology, ... ORPHA:293725
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Tremor, Dysplastic corpus callosum, Pineal cyst, Thick corpus callosum OMIM:300967
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Microcephaly, Choroid plex... OMIM:304050
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Dysgyria, Tremor, Exaggerated startle response OMIM:620327
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
White-Kernohan Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder OMIM:619426
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Hydrocephalus, Ataxia ORPHA:2720
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebral hypoplasia, Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Pa... OMIM:210710
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus OMIM:309801
Mosaic Trisomy 1
Polymicrogyria, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Dystonia, Microcephaly, Colpocephaly, Ataxia OMIM:620083
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Excessive shyness, Anterior pituit... ORPHA:466791
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus c... OMIM:619479
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Decreased response to growth hormone stimulation ... OMIM:615873
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Polymicrogyria, Gait ataxia, Hypoplasia of the corpus callos... ORPHA:75857
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Diffuse white matter abnormalities, T2 hypointense basal ganglia, Exagg... ORPHA:79255
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Holoprosencephaly 13, X-Linked
Microcephaly, Colpocephaly, Septo-optic dysplasia, Agenesis of corpus callosum OMIM:301043
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Colpocephaly, Microcephaly OMIM:618460
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Abnormal fear-induced behavior, Secondary microcephaly, Abno... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Abnormal fear-induced behavior, Secondary microcephaly, Abno... ORPHA:353277
Zttk Syndrome
Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor... OMIM:617140
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Witteveen-Kolk Syndrome
Ventriculomegaly, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus... OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Progressive ventriculomegaly, Abnormal cerebral cortex morphology, Lateral vent... ORPHA:500150
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Diffuse cerebral atrophy, Mic... OMIM:270400
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Cerebral white matter hypoplasia, Hypoplasia of the corpus callosum ORPHA:477993
Neurocardiofaciodigital Syndrome
Lateral ventricle dilatation, Dilated fourth ventricle, Hypoplasia of the corpus callosum, Microc... OMIM:619869
Williams Syndrome
Ataxia, Cerebral cortical atrophy, Depression, Dysmetria, Overfriendliness, Tremor, Microcephaly,... ORPHA:904
Keppen-Lubinsky Syndrome
Opisthotonus, Microcephaly, Lateral ventricle dilatation OMIM:614098
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Hypoplasia of the corpus callosum ORPHA:369950
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Chromosome 1P36 Deletion Syndrome, Distal
Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Red... OMIM:607872
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Increased circulating prolactin concentration, Absent septum pellucidum, Hypoplasia of the corpus... ORPHA:438213
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly, Colpocephaly, Pachygyria, Thin corpus callosum OMIM:606170
Norrie Disease
Cerebral cortical atrophy, Irritability, Microcephaly, Attention deficit hyperactivity disorder, ... ORPHA:649
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:300896
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Microcephaly, Attention deficit hyperactivity disorder, Exaggerated startle response 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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