All individuals with variants in gene PIGK

14 entries on 1 page. Showing entries 1 - 14.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00289333 Fam1PatII1 Ind1A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no India Asia - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; no skeletal findings; no low serum alkaline phosphatase 2 2 Philippe Campeau
00289334 Fam2PatII1 Ind2A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Italy - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; epilepsy/seizures; dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; skeletal findings; low serum alkaline phosphatase 1 2 Philippe Campeau
00289335 Fam3PatII1 Ind3 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France Maghreb - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; gastrointestinal anomalies including gastroesophageal reflux disease; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase 2 1 Philippe Campeau
00289336 Fam4PatII1 Ind4 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Egypt - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase 2 1 Philippe Campeau
00289337 Fam5PatIV1 Ind5 PubMed: Nguyen 2020, Journal: Mattioli 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; no dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase 1 1 Philippe Campeau
00289338 Fam6PatII1 Ind6 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Nigeria Igbo tribe - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase 1 1 Philippe Campeau
00289339 Fam7PatII1 Ind7 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; -; ataxia; epilepsy/seizures; no dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; gastrointestinal anomalies including gastroesophageal reflux disease; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase 2 1 Philippe Campeau
00289340 Fam8PatV1 Ind8 PubMed: Nguyen 2020, Journal: Mattioli 2020 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; no dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase 1 1 Philippe Campeau
00289341 Fam9PatII1 Ind9A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected BROTHERS, unaffected heterozygous carrier parents M yes Pakistan - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; no hand/no foot anomalies; no skeletal findings 1 2 Philippe Campeau
00296268 Fam1PatII3 Ind1B PubMed: Nguyen 2020, Journal: Mattioli 2020 - M no India - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; -; movement disorder; no epilepsy/no seizures; dysmorphisms; no ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase 2 1 Johan den Dunnen
00296269 Fam2PatII2 Ind2B PubMed: Nguyen 2020, Journal: Mattioli 2020 - F yes Italy - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; skeletal findings; low serum alkaline phosphatase 1 1 Johan den Dunnen
00296270 Fam9PatII2 Ind9B PubMed: Nguyen 2020, Journal: Mattioli 2020 - M yes Pakistan - - 0 - - GPIBD hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings 1 1 Johan den Dunnen
Legend