All individuals with variants in gene PIGG

9 entries on 1 page. Showing entries 1 - 9.
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00050680 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - ? intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly 1 2 Johan den Dunnen
00065123 26996948-FamPatV1[EG01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 2-generation family, 2-affected sisters, PatV1[EG01] F yes Egypt - >24y 0 - Combiantion of valproate and carbamazepine ID seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999) 1 2 Jamie Zeegers
00065125 26996948-FamPatV5[EG02] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 PatV5[EG02] F yes Egypt - >14y 0 - Combiantion of valproate and topiramate ID seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999) 1 1 Jamie Zeegers
00065127 26996948-FamJPPatV6[JP01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >03y 0 - - ID seizures (HP:0001250), vomiting (HP:0002013), lowering of consciousness (HP:0004372), eye deviation to the right side (HP:?), tonic-clonic seizures (HP:0002069), no dysmorphism (-HP:0001999), no hepatosplenomegaly (-HP:0001433), psychomotor developmental delay (HP:0001263), autistic features (HP:0001263), poor appetite (HP:0004396) 2 1 Jamie Zeegers
00065129 26996948-FamPKPatV6[JP01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 4-generation family, affected brothers, unaffected heterozygous carrier parents M yes Pakistan - >12y 0 - - ID severe ataxia (HP:0001251), single episode of seizures (HP:0001250), no dysmorphic features (HP:0001999), nonspecific cerebellar hypoplasia (HP:0001321), mild cerebral atrophy (HP:0002059) 1 2 Jamie Zeegers
00065132 26996948-FamPKPatV10[PK02] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - M yes Pakistan - >10y 0 - - ID severe ataxia (HP:0001251), no epileptic seizures (HP:0001250), no dysmorphic features (HP:0001999), nonspecific cerebellar hypoplasia (HP:0001321), mild cerebral atrophy (HP:0002059) 1 1 Jamie Zeegers
00155045 - PubMed: Zhao 2017 - M no Palestine - - 0 - - ID - 1 2 Philippe Campeau
00155046 - PubMed: Zhao 2017 - F no Palestine - - 0 - - ID - 1 1 Philippe Campeau
00207523 28771251-Pat64 PubMed: Lionel et al., 2018 Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS M - Canada - - 0 - - GPIBD Global developmental delay; muscular hypotonia; febrile seizures; decreased activity of mitochondrial complex II 1 1 Philippe Campeau
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