Individual #00025924

ID_report -
Reference PubMed: Horn 2011
Remarks Index case with Hyperphosphatasia-mental retardation syndrome 1.
Gender ?
Consanguinity ?
Country Poland
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS-1
Owner name Philippe Campeau


Phenotypes

hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2)) (HPMRS-1;GPIBD-2)   Add phenotype for this disease

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0000021994 Clinical features included developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and anal atresia. - - Familial, autosomal recessive - - - - - Philippe Campeau



Screenings


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Owner     
0000025926 DNA SEQ - - PIGV 2 Philippe Campeau



Variants

2 entries on 1 page. Showing entries 1 - 2.
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1 Unknown +/. g.27120992G>A g.26794501G>A - - PIGV_000005 This mutation was not detected in 150 control samples. This missense mutation affects a conserved residue. PubMed: Horn 2011 - - Germline yes - - 0 - Philippe Campeau PIGV - - - - - - NM_017837.3:c.467G>A - - r.(?) p.(Cys156Tyr) - - - - - - - - - - - - - - - - - - -
1 Unknown +/+ g.27121547C>A g.26795056C>A - - PIGV_000001 - - - rs139073416 Germline ? - - 0 - Philippe Campeau PIGV - - - - - - NM_017837.3:c.1022C>A - - r.(?) p.(Ala341Glu) - - - - - - - - - - - - - - - - - - -
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