All individuals with variants in gene BCL11A

24 entries on 1 page. Showing entries 1 - 24.
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00050592 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - ? hypermobility of interphalangeal joints, bilateral coxa valga, valgus foot deformity, global developmental delay 1 1 Johan den Dunnen
00050636 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, delayed gross motor development, delayed speech and language development, anteriorly placed anus, frontal upsweep of hair, localized hirsutism, thick lower lip vermilion, strabismus, sparse eyebrow, joint laxity 1 1 Johan den Dunnen
00050658 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, truncal ataxia, recurrent hand flapping, autism, sleep disturbance 1 1 Johan den Dunnen
00078879 - PubMed: Dias 2016, Journal: Dias 2016 De novo, individual 1 F - - - - - - - ID no microcephaly (-HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), anteverted nose (HP:0000463), no mircoretrognathia (-HP:0000308), frontal upsweep (HP:0000308), cleft uvula (HP:0000193), no external ear anomalies (-HP:0000356), joint hypermobility (HP:0001382), no short stature (-HP:0004322), broad based gait abnormalities (HP:0002136), anteriorly placed anus (HP:0001545), dyspraxia (HP:0011098), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), emotional lability (HP:0000712), no sleep disturbance (-HP:0002360); mild/moderate intellectual disability (HP:0001249) 1 1 Jamie Zeegers
00078880 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 2 M - - - - - - - ID no microcephaly (-HP:0000252), no downslanting palpebral fissures (-HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), no mircoretrognathia (-HP:0000308), coarse hair (HP:0002208), no external ear anomalies (-HP:0000356), no joint hypermobility (-HP:0001382), no short stature (-HP:0004322), broad based gait abnormalities (HP:0002136), truncal ataxia (HP:0002078), autism spectrum disorder (HP:0000729), repetitive behaviour (HP:0000733), recurrent hand flapping (HP:0100023), sleep disturbance (HP:0002360); moderate/severe intellectual disability (HP:0001249) 1 1 Jamie Zeegers
00078881 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 3 F - - - - - - - ID microcephaly (HP:0000252), no downslanting palpebral fissures (-HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), no everted lower lip (HP:0000232), anteverted nose (HP:0000463), full tip nose (HP:?), no mircoretrognathia (-HP:0000308), unilateral (left) flat helix, prominent anti-crus (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), fetal pads (HP:?), bilateral coxa valga (HP:0010665), valgus foot deformity (HP:0008081), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), sensory abnormality (HP:0011730), self-injurious behaviour (HP:0100716), sleep disturbance (HP:0002360); moderate intellectual disability (HP:0002342) 1 1 Jamie Zeegers
00078882 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 4 F - - - - - - - ID microcephaly (HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), blue sclera in infancy (HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), no abnormality of the nose (-HP:0000366), no mircoretrognathia (-HP:0000308), small mouth (HP:0000160), high palate (HP:0000218), pointed chin (HP:0000307), bilateral microtia (HP:0008551), asymmetric low-set ears (HP:0000369), with overfolded and cupped helix (HP:0000396), attached earlobes (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), recurrent hand flapping (HP:0100023), biting (HP:?), sleep disturbance (HP:0002360); moderate intellectual disability (HP:0002342) 1 1 Jamie Zeegers
00078883 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 5 F - - - - - - - ID microcephaly (HP:0000252), no downslanting palpebral fissures (-HP:0000494), epicanthus (HP:0000286), strabismus (HP:0000486), blue sclera in infancy (HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), no everted lower lip (-HP:0000232), no abnormality of the nose (-HP:0000366), no mircoretrognathia (-HP:0000308), small mouth (HP:0000160), plagiocephaly (HP:0001357), synophrys (HP:0000664), low-set ears (HP:0000369), with overfolded helixes (HP:0000396), attached earlobes (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), hernia repair (HP:?), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342) 1 1 Jamie Zeegers
00078884 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 6 F - - - - - - - ID microcephaly (HP:0000252), blue sclera in infancy (HP:0000592), retrognathia (HP:0000278), short stature (HP:0004322), congenital hip dislocation (HP:0001374), delayed bone age (HP:0002750) 1 1 Jamie Zeegers
00078885 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 7 F - - - - - - - ID microcephaly (HP:0000252), downslanting palpebral fissures (HP:0000494), epicanthus (HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), no flat midface (-HP:0040199), no thin upper lip (-HP:0000219), everted lower lip (HP:0000232), full tip nose (HP:?), no mircoretrognathia (-HP:0000308), large tip of the nose (HP:?), broad bridge (HP:0000431), flared eyebrows (HP:0011229), telecanthus (HP:0000506), thick overfolded helixes (HP:0000396), joint hypermobility (HP:0001382), short stature (HP:0004322), no gait abnormalities (-HP:0001288), gastroesophageal reflux (HP:0002020), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342) 1 1 Jamie Zeegers
00078886 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 8 F - - - - - - - ID no microcephaly (-HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), no flat midface (-HP:0040199), thin upper lip (-HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), full tip nose (HP:?), retrognathia (HP:0000278), large tip of the nose (HP:?), high palate (HP:0000218), no external ear anomalies (-HP:0000356), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), large 2nd metacarpals (HP:?), scoliosis (HP:0002650), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), anxiety (HP:0000739), eating disorder (HP:?), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342) 1 1 Jamie Zeegers
00078887 - PubMed: Dias 2016, Journal: Dias 2016 De novo, Individual 9 M - - - - - - - ID no microcephaly (-HP:0000252), no downslanting palpebral fissures (-HP:0000494), epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (-HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), full tip nose (HP:?), micrognathia (HP:0000347), high nasal bridge (HP:0000426), dysplastic ears (HP:0000377 ), posteriorly rotated ears (HP:0000358), joint hypermobility (HP:0001382), no short stature (-HP:0004322), ataxia gait (HP:0002066), pectus excavatum (HP:0000767), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342) 1 1 Jamie Zeegers
00133220 25533962-Pat10 PubMed: De Rubeis 2014, PubMed: Dias 2016 - F - - - - - - - autism autism, severe intellectual disability; 6y-speaks 2 words 1 1 Johan den Dunnen
00133221 27453576-Ind11 PubMed: Iossifov 2012, PubMed: Dias 2016 - M - - - - - - - autism autism 1 1 Johan den Dunnen
00164723 - - - F - (Germany) - - - - - ? Intellectual disability, mild (HP:0001256); Epileptic spasms (HP:0011097); Short stature (HP:0004322) 1 1 IMGAG
00206820 - - - M - - - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00276055 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Small for gestational age (HP:0001518); Rudimentary postaxial polydactyly of hands (HP:0005676); Congenital microcephaly (HP:0011451); Elevated serum creatine kinase (HP:0003236); Telecanthus (HP:0000506); Epicanthus (HP:0000286); Almond-shaped palpebral fissure (HP:0007874); Inverted nipples (HP:0003186); Dandy-Walker malformation (HP:0001305) 1 1 IMGAG
00374540 S-4670 PubMed: Ganapathy 2019 - - - India - - - - - ? cognitive deficiency, global developmental delay, delayed speech, intellectual disability, broad facies and obesity 1 1 Johan den Dunnen
00392551 149008 - - F no Germany - - - - - ID Delayed speech and language development, Mild microcephaly, Alternating esotropia, Poor motor coordination, Mild global developmental delay 1 1 Andreas Laner
00434742 Pat84 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434743 Pat85 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434744 Pat86 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00438586 HSC0035 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00440384 PED2653.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
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