All individuals with variants in gene TUBB3

23 entries on 1 page. Showing entries 1 - 23.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00100440 - - - F ? - - - - - - CDCBM1 Cerebellar dysplasia;Abnormality of brainstem morphology;Hypoplasia of the pons;Dysgenesis of corpus callosum;Neurodevelopmental delay; Intellectual disability, borderline 1 1 Enza Maria Valente
00100441 - - - F ? - - - - - - CDCBM1 Cerebellar dysplasia; Aplasia/Hypoplasia of the corpus callosum;Abnormality of the basal ganglia,Neurodevelopmental delay;Hypotonia early;Cerebellar ataxia;Intellectual disability, mild;Oculomotor apraxia;Sensorineural deafness 1 1 Enza Maria Valente
00100442 - - - M ? - - - - - - CDCBM1 Cerebellar dysplasia;Cerebellar vermis hypoplasia;Abnormality of brainstem morphology;Hypoplasia of the pons; Aplasia/Hypoplasia of the corpus callosum; Abnormality of the basal ganglia;Neurodevelopmental delay; Generalized hypotonia;Intellectual disability, moderate; Strabismus; Nystagmus; Depigmented fundus 1 1 Enza Maria Valente
00100443 - - - F ? - - - - - - CDCBM1 Cerebellar dysplasia; Cerebellar vermis hypoplasia;Abnormality of the brainstem;Hypoplasia of the pons;Dysgenesis of corpus callosum; Abnormality of the basal ganglia;Neurodevelopmental delay; Generalized hypotonia;Dystonia;Intellectual disability, moderate 1 1 Enza Maria Valente
00100444 - - - M ? - - - - - - CDCBM1 Cerebellar vermis hypoplasia;Hypoplasia of the pons; Aplasia/Hypoplasia of the corpus callosum; Abnormality of the basal ganglia;neurodevelopmental delay;Axial hypotonia 1 1 Enza Maria Valente
00100445 - - - F ? - - - - - - CFEOM3A Aplasia/Hypoplasia of the corpus callosum;Abnormality of olfactory lobe morphology; Abnormality of the seventh cranial nerve; abnormality of the cranial nerve;neurodevelopmental delay;facial diplegia;intellectual disability, moderate;ptosis;strabismus;nistagmus;dysmorphic facies 1 1 Enza Maria Valente
00327516 F1:II-3 - - M ? United Kingdom (Great Britain) - - - - - CCDD - 1 1 Mervyn Thomas
00327518 F1:II-2 - - M ? - - - - - - CCDD - 1 1 Mervyn Thomas
00327519 F:I-1 - - M no United Kingdom (Great Britain) - - - - - CCDD - 1 1 Mervyn Thomas
00327523 F4:II-1 - - - - - - - - - - CCDD - 1 1 Mervyn Thomas
00327524 F4:II-2 - - - - - - - - - - CCDD - 1 1 Mervyn Thomas
00327525 F4:I-2 - - - - - - - - - - CCDD - 1 1 Mervyn Thomas
00327526 F4:II-3 - - - - - - - - - - CCDD - 1 1 Mervyn Thomas
00327528 S2:II-1 - - - - - - - - - - CCDD - 1 1 Mervyn Thomas
00375658 Pat59 PubMed: Srivastava 2014 - - - United States - - - - - ? progressive; developmental regression; intellectual disability/developmental delay; tremor, broad-based gait; MRI brain ventriculomegaly, basal ganglia and thalamus signal changes, poorly developed pons 1 1 Johan den Dunnen
00390073 Fam1Pat3 PubMed: Nissenkorn 2021 family, affected son/mother; son M - Israel - - - - - MRMV MRI brain hypoplastic corpus callosum, disorganization of vermis and cerebellar hemispheres, asymmetric; mild speech delay; regular education; OFC -2 SD; no epilepsy; no cerebellar signs; 1 2 Johan den Dunnen
00390074 Fam2Pat4 PubMed: Nissenkorn 2021 mother F - Israel - - - - - MRMV MRI brain ventriculomegaly; ventriculomegaly, disorganized vermian and cerebellar hemisphere foliation, asymmetric brain stem; mild motor delay; college student; OFC -2 SD; no epilepsy; mild gait ataxia on tandem; 1 1 Johan den Dunnen
00440365 PED1909.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440382 PED2641.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440411 PED2120.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00444312 Pat83 PubMed: Moon 2021 - - - Korea - - - - - retinal disease - 1 1 Johan den Dunnen
00462294 051-080-RLH PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - ? 26gw+6-ventriculomegaly, simplified cortical gyration, pontocerebellar hypoplasia 1 1 Johan den Dunnen
00462298 CONGÉ-052 PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - ? 20gw-ventriculomegaly, agenesis corpus callosum, cerebellar hypoplasia 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.