All individuals with variants in gene PGAP1

9 entries on 1 page. Showing entries 1 - 9.
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00025011 26350515-Pat12 PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - M ? Netherlands caucasian - 0 - - CVI, ID see paper; ... 3 1 Danielle Bosch
00025127 - PubMed: Novarino 2014 4-generation family, 2 affected siblings (9m, 6y) with spastic paraplegia, unaffected heterozygous carrier parents M yes ? (unknown) Middle East - 0 - - MRT-42;GPIBD-9 The patients had global developmental delay, hand and foot tremors, and spasticity. The older brother could walk with support. Both had increased deep tendon reflexes. The older brother had prominent cortical sulci and widened sylvian fissures; the younger brother had agenesis of the corpus callosum, cerebellar vermis hypoplasia, and defective myelination. The older brother had borderline intelligence. 1 2 Philippe Campeau
00025128 - PubMed: Murakami 2014 Two siblings,4 and 2-year-old, with mental retardation. - yes Syria African - 0 - - MRT-42;GPIBD-9 At birth, the older sister was hypotonic and his borther was a floppy baby. Both children have a developmental delay and severe intellectual disability with an estimated IQ below 35. The girl had major and absence epilepsy. They showed some stereotypic movements. Brain CT scan of the girl at age of one year revealed pronounced brain atrophy. They had microcephaly. Both children have large ears and a flattened nasal root. Their parents had head circumferences in the lower percentiles. 1 1 Philippe Campeau
00081033 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MRT-42;GPIBD-9 Mental retardation, autosomal recessive 42 (OMIM:615802) 1 1 Daniel Trujillano
00155047 II-1 PubMed: Kettwig 2016 - M no - Caucasian - 0 - - ? - 2 2 Philippe Campeau
00155048 II-2 PubMed: Kettwig 2016 dizygotic twins with ID00155047 M no - Caucasian - 0 - - - - 2 1 Philippe Campeau
00155049 Patient_1 PubMed: Granzow 2015 - F yes Turkey - - 0 - - - - 1 2 Philippe Campeau
00155050 Patient_2 PubMed: Granzow 2015 - M yes Turkey - - 0 - - - - 1 1 Philippe Campeau
00155200 - PubMed: Williams 2015 - M no - - - 0 - - - - 2 1 Philippe Campeau
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