All individuals with variants in gene PIGN

38 entries on 1 page. Showing entries 1 - 38.
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00016532 - PubMed: Maydan 2011 seven affected family members - yes Israel Arabic - - - - MCAHS1;GPIBD3 developmental delay, dysmorphic features, multiple congenital anomalies involving the cardiac, genitourinary and gastrointestinal systems; severe neurological impairment with chorea and seizures leading to early death 1 7 Philippe Campeau
00024935 - PubMed: Brady 2014 affected fetus, pregnancy terminated 16w gestation; unaffected heterozygous carrier parents - yes (Belgium) Africa, north <00y00m00d - - - MCAHS1;GPIBD3 multiple congenital anomalies including bilateral diaphragmatic hernia, cardiovascular anomalies, segmental renal dysplasia, facial dysmorphism, cleft palate, oligodactyly 1 1 Philippe Campeau
00024936 - PubMed: Ohba 2014 2-generation family, 2 affected sibs (borther, sister) and unaffected heterozygous carrier parents - no Japan - <0d - - - MCAHS1;GPIBD3 see paper; congenital anomalies, developmental delay, hypotonia, epilepsy, progressive cerebellar atrophy 2 2 Philippe Campeau
00050538 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure 1 1 Johan den Dunnen
00063836 - PubMed: McInerney-Leo 2016 - ? no - Scandinavian - - - - FRNS Fryns syndrome diagnosed prenatally 2 1 Aideen McInerney-Leo
00063837 - PubMed: McInerney-Leo 2016 - ? ? Iraq - - - - - FRNS - 1 1 Aideen McInerney-Leo
00103742 SUDS006 PubMed: Neubauer 2018, Journal: Neubauer 2018 - - - Switzerland Europe 07y - - - SUD SUD, SUDEP 1 1 Cordula Haas
00146559 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Language impairment (HP:0002463); Seizures (HP:0001250); Microcephaly (HP:0000252) 1 1 IMGAG
00150154 26539891-FamBAB5703 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, NORMAL MRI, seizures, developmental delay, CP 1 1 Johan den Dunnen
00155037 - PubMed: Couser 2015 - M no - Mexican American - - - - MCAHS1;GPIBD3 - 2 1 Philippe Campeau
00155038 Patient_1 PubMed: Fleming 2016 - F no - white - - - - - - 2 2 Philippe Campeau
00155039 Patient_2 PubMed: Fleming 2016 - F no - white - - - - - - 2 1 Philippe Campeau
00155040 Patient_3 PubMed: Fleming 2016 - F - - African American - - - - - - 2 1 Philippe Campeau
00155041 Patient_4 PubMed: Fleming 2016 - F - - white - African American - - - - - - 2 1 Philippe Campeau
00155042 - PubMed: Khayat 2016 - F yes - Israeli–Arab - - - - MCAHS1;GPIBD3 - 1 1 Philippe Campeau
00155043 Patient_2 PubMed: Jezela-Stanek 2016 - F no - - - - - - - - 2 1 Philippe Campeau
00155044 - PubMed: Thiffault 2017 - M - - - - - - - - - 2 1 Philippe Campeau
00163766 Patient_1 PubMed: Alessandri 2018 - M no Reunion - 00y00m08d - - - FRNS - 1 2 Philippe Campeau
00163767 Patient_2 PubMed: Alessandri 2018 - F no Reunion - - - - - FRNS - 1 1 Philippe Campeau
00163768 Patient_3 PubMed: Alessandri 2018 - F no Reunion - - - - - FRNS - 1 1 Philippe Campeau
00163769 Patient_4 PubMed: Alessandri 2018 - F no Mayotte - - - - - FRNS - 1 1 Philippe Campeau
00163771 Patient_5 PubMed: Alessandri 2018 - F yes - North African 00y00m02d - - - FRNS - 1 2 Philippe Campeau
00163773 Patient_6 PubMed: Alessandri 2018 - M yes - North African - - - - FRNS - 1 1 Philippe Campeau
00163931 259633 PubMed: Pagnamenta 2017 - F no - White British white - - - - epilepsy - 2 1 Philippe Campeau
00163932 - PubMed: Nakagawa et al.2015 - M no Japan - - - - - epilepsy, ID - 2 1 Philippe Campeau
00183682 27620904-Pat27 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 2 1 Johan den Dunnen
00207535 Patient PubMed: Xu et al., 2017 - M - China Chinese >00y04m - - - MCAHS1;GPIBD3 epilepsy, hypotonia, developmental delay, accompanied by nearly normal laboratory test results 2 1 Philippe Campeau
00213053 Fam1_Case1 PubMed: Thuresson et al. 2018 - F yes - - - - - - MCAHS1;GPIBD3 Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, cerebellar atrophy, increased cerebrospinal fluid spaces, visual impairment (pathological VEP), PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Microcephaly (OFC −4SD), round face, low anterior hairline, broad nasal bridge, high-arched palate, small chin, slender feet and hirsutism. Scoliosis. Dry skin, peeling on feet. 1 1 Philippe Campeau
00213134 Fam1, Case2 PubMed: Thuresson et al., 2018 - M yes - - - - - - MCAHS1;GPIBD3 Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Bitemporal narrowing, broad nasal bridge, large ears, thin upper-vermillion and a smooth, long philtrum. Scoliosis. Dry skin, peeling on feet. 1 1 Philippe Campeau
00274143 Pat6 PubMed: Pronicka 2016 - F - Poland - - - - - ? mitochondrial disease criteria score 4 2 1 Johan den Dunnen
00291995 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00291996 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 24 Mohammed Faruq
00314861 Trio7 PubMed: Zhu 2015 - F - Israel - - - - - ? Epileptic encephalopathy, myoclonic jerks from day 1, profound intellectual disability, cardiomyopathy, cortical blindness, tracheostomy, PEG feeding, hydronephrosis, progressive cerebellar and cerebral atrophy, and leukoencephalopathy. 2 1 Johan den Dunnen
00374806 S-2534 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00386391 187571 - - M yes - Arabian - - - - MCAHS1;GPIBD3 Omphalocele, Hydronephrosis, Echogenic fetal bowel, Increased nuchal translucency, Dextrocardia, Abnormality of ductus venosus blood flow 1 1 Andreas Laner
00401573 188P - - F no Spain - - - - - ID - 2 1 Alejandro Brea-Fernández
00427981 A040 PubMed: Bournazos 2022 family, affected 2 affected fetuses) - - Australia - - - - - ? termination of pregnancy because of multiple congenital anomalies (diaphragmatic defect, pulmonary hypoplasia, cardiovascular malformation, genital malformation, absent olfactory bulbs, absent 12th ribs) 1 2 Johan den Dunnen
00452329 - - - F - - (not applicable) white - - - - ? HP:0001252, HP:0001344, HP:0000297, HP:0000486, HP:0000218, HP:0012428 2 1 Marketa Wayhelova
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