All individuals with variants in gene FOXP2

8 entries on 1 page. Showing entries 1 - 8.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00234408 - - - F - - - - - - - ? HP:0000750 (Delayed speech and language development) 1 1 IMGAG
00238998 - - - F - - - - - - - ? HP:0002474 (Expressive language delay) 1 1 IMGAG
00246627 - - - F - - - - - - - ? Cognitive impairment (HP:0100543); Language impairment (HP:0002463); Global developmental delay (HP:0001263) 1 1 IMGAG
00294267 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 43 Mohammed Faruq
00303354 Pat42 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; mild intellectual disability; developmental delay, mild; motor delay, mild; speech delay, severe, 6y-no speech; no dysarthria; no epilepsy; 4m-mild, generalized hypotonia; no spasticity; no ataxia; MRI brain normal (infancy); no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; mild constipation; no urogenital abnormalities; No; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
00373714 iw086 - - F no China Chinese - - - - SPCH1 HP:0001252; HP:0001263; HP:0008070; HP:0000975; HP:0005968; HP:0012766 1 1 Wenjuan Qiu
00466418 - 2-generation family, 3 affected (proband, mother, brother) - M - - (not applicable) white - - - - NDD HP:0001249, HP:0002474 1 3 Marketa Wayhelova
00466852 - - - M - - (not applicable) white - - - - NDD HP:0001263, HP:0002474, HP:0000750 1 1 Marketa Wayhelova
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