All individuals with variants in gene PIGW

7 entries on 1 page. Showing entries 1 - 7.
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00025483 - PubMed: Chiyonobu 2014 Index case with hyperphosphatasia with mental retardation 5 . OMIM 610275. M no Japan - - 0 - - HPMRS-2;GPIBD-6 Development was profoundly delayed from early infancy. Dysmorphic facial features included broad nasal bridge and tented upper lip. Inguinal hernia was noted. The patient developed clusters of tonic spasms and was diagnosed as having West syndrome based on a high-amplitude hypsarrhythmic pattern on interictal EEG. ALP level were elevated. 2 1 Philippe Campeau
00155020 Patient_1 PubMed: Hogrebe 2016 - M yes - - - 0 - - - - 1 2 Philippe Campeau
00155021 Patient_2 PubMed: Hogrebe 2016 - F - - - - 0 - - - - 1 1 Philippe Campeau
00181144 - - - M ? - - - 0 - - FRNS Dandy Walker malformation (HP:0001305), Hydronephrosis (HP:0000126), External genital hypoplasia (HP:0003241) 1 2 Isabel Filges
00181145 - - - F ? - - - 0 - - FRNS Dandy Walker malformation (HP:0001305), Renal dysplasia (HP:0000110), Hydronephrosis (HP:0000126), Diaphragmatic hernia (HP:0000776) 1 1 Isabel Filges
00207532 Patient PubMed: Foskett et al., 2018 - F no Mexico Mexican >00y08m 0 - - epilepsy Infantile spasms, myoclonic seizures, cortical visual impairment, developmental delay, and minor dysmorphic features (Anteverted nares, tented upper lip), pectus excavatum, and mild flexion contractures of all fingers bilaterally. Alkaline phosphatase levels ranged from normal to mildly elevated. No evidence of metabolic bone disease. 2 1 Philippe Campeau
00207792 - - - M - Germany - - 0 - - - HP:0000098 (Tall stature); HP:0100022 (Abnormality of movement); HP:0012758 (Neurodevelopmental delay); HP:0001679 (Abnormality of the aorta); HP:0000365 (Hearing impairment); HP:0000717 (Autism) 1 1 Andreas Laner
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