All individuals with variants in gene PPP2R1A

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00050405 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? plagiocephaly, anteverted nares, muscular hypotonia, broad hallux, abnormal hair whorl, abnormality of the eye, hydrocephalus, seizures, thin corpus callosum 1 1 Johan den Dunnen
00050460 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, finger joint hypermobility, joint hypermobility, aplasia/hypoplasia of the corpus callosum, deviation of the 5th finger, pectus excavatum, seizures 1 1 Johan den Dunnen
00050691 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? delayed gross motor development, aplasia/hypoplasia of the corpus callosum, congenital visual impairment, plagiocephaly, facial asymmetry, prominent metopic ridge 1 1 Johan den Dunnen
00307962 15DG2336 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Global developmental delay, IUGR, Hypospadias, Cryptorchidism, Central sleep apnea, Epicanthus inversus, Underdeveloped nasal alae, Hypotelorism, Scoliosis 1 1 Johan den Dunnen
00401571 183P - - F no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00438687 HSJ0692 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00440386 PED2709.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00464593 Pat12 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464594 Pat13 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464595 Pat14 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464596 Pat15 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
00464597 Pat16 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - ID see paper; ..., severe intellectual disability, severe developmental delay 1 1 Johan den Dunnen
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