All individuals with variants in gene TUBB

9 entries on 1 page. Showing entries 1 - 9.
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00072155 26637975-PatM3 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, unaffected non-carrier parents - no Canada - >15y - - - CSCSC1 decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs: fingers, neck, penis – improved at follow-up, but visible (HP:?), microphthalmia (HP:0000568), short palpebral fissures (HP:0012745), epicanthal folds (HP:0000286), flat supraorbital ridge (HP:0009891), low nasal bridge (HP:0005280), long philtrum (HP:0000343), small mouth (HP:0000160), small low-set posteriorly rotated malformed (HP:0000377) ears (HP:0000368) with thick overfolded helices (HP:0000396), brachycephaly (HP:0000248), wide-spaced nipples (HP:0006610), intellectual disability, mild (HP:0001256), normal brain imaging (HP:?) 1 1 Jamie Zeegers
00072156 26637975-Pat11 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, unaffected non-carrier parents - no Norway - >05y06m - - - CSCSC1 no decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs and neck; disappeared at age 4 years; still creases on wrists (HP:?), short palpebral fissures (HP:0012745), blepharophimosis (HP:0000581, broad nasal bridge (HP:0000431) with epicanthal folds (HP:0000286), flat face (HP:0012368), small mouth (HP:0000160), mild asymmetry in face and abdomen (HP:?), low-set dysmorphic and posteriorly rotated ears (HP:0000368), short neck (HP:0000470), long fingers (HP:0100807), intellectual disability, mild (HP:0001256) to intellectual disability, moderate (HP:0002342), normal brain imaging (HP:?), infantile hypotonia (HP:0008947) 1 1 Jamie Zeegers
00072157 26637975-Pat15 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, unaffected non-carrier parents - yes Turkey - >00y18m - - - CSCSC1 reduced head circumference – current (HP:0000252), high palate (HP:0000218), no cleft palate (-HP:0000175), creases limbs (HP:?), elongated face (HP:0000300), flat face (HP:0012368), hypertelorism (HP:0000316), upslanting short palpebral fissures (HP:0000582), epicanthus (HP:0000286), periorbital fullness (HP:0000629), long eyelashes (HP:0000527), blepharophimosis (HP:0000581), broad nasal bridge (HP:0000431), depressed nasal bridge (HP:0005280), malformed ears (HP:0000377 ), lowset ears (HP:0000369), microstomia (HP:0000160), down-turned corners of the mouth (HP:0002714), wide-spaced nipples (HP:0006610), second and third toe syndactyly (HP:0004691), mild developmental delay (HP:0011342), particularly speech delay (HP:0000750), hypoplasia of corpus callosum (HP:0002079), Dandy-Walker malformation (HP:0001305) 1 1 Jamie Zeegers
00294049 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00294050 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 165 Mohammed Faruq
00390075 Fam2Pat5 PubMed: Nissenkorn 2021 family, affected father/2 daughters F - Israel - - - - - MRMV dysplastic corpus callosum, asymmetric ventriculomegaly; mild gross motor delay; regular education; OFC -1 SD; no epilepsy; no cerebellar signs; no dystonia 1 3 Johan den Dunnen
00390076 Fam3Pat6 PubMed: Nissenkorn 2021 father M - Israel - - - - - MRMV ventriculomegaly, disorganized vermian and cerebellar hemisphere foliation, asymmetric brain stem; no developmental delay; college graduate; epilepsy; mild gait ataxia on tandem, horizontal nystagmus; no dystonia 1 1 Johan den Dunnen
00390077 Fam3Pat7 PubMed: Nissenkorn 2021 sister F - Israel - - - - - MRMV hypoplastic corpus callosum, asymmetric ventriculomegaly, dysgyria and polymicrogyria, dysmorphic basal ganglia, hypoplastic disorganized vermis, hypoplastic asymmetric brain stem; no developmental delay; regular school; OFC -2 SD; no epilepsy; mild terminal kinetic tremor bilaterally; no dystonia 1 1 Johan den Dunnen
00462296 CONGÉ-043 PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - ? 27gw-microlissencephaly, agenesis of the corpus callosum, pontocerebellar hypoplasia, circumferential skin folds 1 1 Johan den Dunnen
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