All individuals with variants in gene PPP1CB

2 entries on 1 page. Showing entries 1 - 2.
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AscendingIndividual ID     

ID_report     

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Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Phenotype details     

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Panel size     

Owner     
00302782 1439.518 PubMed: Hamdan 2015 - F - Canada - - 0 - - ID severe intellectual disability; no speech; walk-6y; no epilepsy; no autistic features; no microcephaly; no macrocephaly; CT brain increased CSF spaces; hypotonic, brisk reflexes; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; stereotyped hand movements, large mouth, malar hypoplasia, short stature, lymphangioma 1 1 Johan den Dunnen
00325399 Pat12 PubMed: Hong 2020 - M - Taiwan - - 0 - - ? 2m-onset seizures; apnea, eye gazed deviation, myoclonic seizures; severe global developmental delay 1 1 Johan den Dunnen
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