All individuals with variants in gene CDK5RAP2

13 entries on 1 page. Showing entries 1 - 13.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 3 1 Global Variome, with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00080838 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MCPH3 Microcephaly 3, primary, autosomal recessive (OMIM:604804) 1 1 Daniel Trujillano
00289355 - - - F - - - - - - - ? Microcephaly (HP:0000252) 1 1 IMGAG
00294731 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294732 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 28 Mohammed Faruq
00359491 - - - M yes Iran - - - - - MCPH3 - 1 1 Ehsan Jafarinia
00359492 - - - M yes Iran - - - - - MCPH3 - 1 1 Ehsan Jafarinia
00374237 S-4086 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay, microcephaly, spastic quadriparesis and failure to thrive, suspected of West syndrome 1 1 Johan den Dunnen
00387789 M8600481 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Zaboli - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00433349 Pan59;Pat18 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient F yes Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth median, length median; OFC (SD-4), weigth (SD-2), length (SD-1.5); no epilepsy; borderline intellectual disability; MRI mild underdevelopment of frontal lobe; birth OFC (SD-2), weigth median, length median; OFC (SD-4), weigth (SD-2), length (SD-1.5); no epilepsy; borderline intellectual disability; MRI mild underdevelopment of frontal lobe 1 1 Johan den Dunnen
00433350 Pat19 PubMed: Duerinckx 2021 family, 2 affected sisters F yes Morocco - - - - - microcephaly primary microcephaly, café au lait spots; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly 1 2 Johan den Dunnen
00433949 MCP121 PubMed: Ahmad 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives F;M yes Pakistan Sindhi - - - - microcephaly microcephaly, OFC SD-5 to -9; severe intellectual disability, able to speak few words, medium frustration level, normal motor skills, no digital and limb malformations, normal height, no epilepsy 1 3 Johan den Dunnen
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