All individuals with variants in gene PIGO

17 entries on 1 page. Showing entries 1 - 17.
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00025057 - PubMed: Krawitz et al 2012 Two sisters with hyperphosphatasia with mental retardation syndrome type 2 (OMIM 614749) F no United Kingdom (Great Britain) Caucasian - 0 - - HPMRS-2;GPIBD-6 The patients were born with anal stenosis. Growth development was delayed in elder sister who also showed marked microcephaly. Psychomotor development was present but it was most severe in elder sister. Their common facial signs included wide-set eyes that appeared large because of long palpebral fissures, a short nose with a broad nasal bridge and nasal tip, and a tented mouth. Their fingers showed nail hypoplasia, especially of the second, fourth, and fifth digits, and absent nails of the fifth digits. Their halluces were broad, but the toes showed small nails or aplasia of nails, especially of the fourth and fifths digits. 2 1 Philippe Campeau
00025058 - PubMed: Krawitz 2012 Index case with hyperphosphatasia with mental retardation syndrome 2. F no ? (unknown) Caucasian 01y10m 0 - - HPMRS-2;GPIBD-6 She was born with anal atresia and perineal fistula. Additional malformations included an atrial septal defect, peripheral pulmonary stenosis, left coronal synostosis resulting in plagiocephaly, and an enlarged supratentorial ventricular system. Growth development was delayed. Psychomotor development was severely retarded. She developed tonic-clonic seizures at the age of 21 months and died at the age of 22 months as a result of a convulsive crisis. Facial signs included wide-set eyes that appeared large because of long palpebral fissures, a short nose with a broad nasal bridge and nasal tip, and a tented mouth. 2 1 Philippe Campeau
00100917 AII-2 - - F no Japan - 01y05m 0 - - HPMRS-2;GPIBD-6 - 1 1 Junpei Tanigawa
00155201 II-1 PubMed: Nakamura 2014 - M no Japan - - 0 - - EE - 2 2 Philippe Campeau
00155202 II-2 PubMed: Nakamura 2014 - F no Japan - - 0 - - EE - 2 1 Philippe Campeau
00155203 AII-2 PubMed: Tanigawa 2017 - F no Japan - - 0 - - - - 2 2 Philippe Campeau
00155204 AII-3 PubMed: Tanigawa 2017 - M no Japan - - 0 - - - - 2 1 Philippe Campeau
00155205 BII-2 PubMed: Tanigawa 2017 - F no Japan - - 0 - - - - 2 1 Philippe Campeau
00155206 CII-2 PubMed: Tanigawa 2017 - F - Japan - - 0 - - - - 2 2 Philippe Campeau
00155207 CII-3 PubMed: Tanigawa 2017 - F no Japan - - 0 - - - - 2 1 Philippe Campeau
00155208 DII-1 PubMed: Tanigawa 2017 - M no Japan - - 0 - - - - 2 1 Philippe Campeau
00155209 Patient_2 PubMed: Xue 2016 - M no China - - 0 - - - - 2 1 Philippe Campeau
00155210 - PubMed: Morren 2017 - M no - Afro-Caribbean - 0 - - - - 2 1 Philippe Campeau
00155211 263039 PubMed: Pagnamenta 2017 - M no - Caucasian - 0 - - - - 2 1 Philippe Campeau
00155212 - PubMed: Kuki 2013 - M no - - - 0 - - - - 2 1 Philippe Campeau
00155213 Patient_1 PubMed: Zehavi 2017 - F yes - Arab Muslim - 0 - - - - 1 2 Philippe Campeau
00155214 - PubMed: Zehavi 2017 - F yes - Arab Muslim - 0 - - - - 1 1 Philippe Campeau
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