All individuals with variants in gene STAB1

14 entries on 1 page. Showing entries 1 - 14.
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00267047 Fam2PatI1 PubMed: Wong 2019, Journal: Wong 2019 2-generation family, 2 homozygous affected sisters (I1, I3), heterozygous carrier parents F - Mexico Hispanic 02y - - - FH LDL 672mg/dl 1 1 Karen HY Wong
00416242 Pat8 PubMed: Monroe 2016 - F - Netherlands - - - - - ID severe syndromic intellectual disability 1 1 Johan den Dunnen
00435581 FamAPat1 PubMed: Monfrini 2023, Journal: Monfrini 2023 2-generation family, 1 affected, unaffected heterozygous parents M yes Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 1 1 Johan den Dunnen
00435582 FamBPat2 PubMed: Monfrini 2023, Journal: Monfrini 2023 2-generation family, affected brothers M yes Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 1 1 Johan den Dunnen
00435583 FamBPat3 PubMed: Monfrini 2023, Journal: Monfrini 2023 brother M yes Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 1 1 Johan den Dunnen
00435584 FamCPat4 PubMed: Monfrini 2023, Journal: Monfrini 2023 2-generation family, affected sisters, unaffected heterozygous parents F no Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 2 1 Johan den Dunnen
00435585 FamCPat5 PubMed: Monfrini 2023, Journal: Monfrini 2023 sister F no Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 2 1 Johan den Dunnen
00435586 FamDPat6 PubMed: Monfrini 2023, Journal: Monfrini 2023 2-generation family, affected brothers, unaffected heterozygous parents M no Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 2 1 Johan den Dunnen
00435587 FamDPat7 PubMed: Monfrini 2023, Journal: Monfrini 2023 brother M no Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 2 1 Johan den Dunnen
00435588 FamEPat8 PubMed: Monfrini 2023, Journal: Monfrini 2023 2-generation family, 1 affected, unaffected heterozygous parents M no Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 2 1 Johan den Dunnen
00435589 FamFPat9 PubMed: Monfrini 2023, Journal: Monfrini 2023 2-generation family, 1 affected, unaffected heterozygous parents M no Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 2 1 Johan den Dunnen
00435590 FamGPat10 PubMed: Monfrini 2023, Journal: Monfrini 2023 2-generation family, 1 affected, unaffected heterozygous parents M no Italy - - - - - HRFT see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia 1 1 Johan den Dunnen
00447962 FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies 1 4 Johan den Dunnen
00447963 FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies 1 1 Johan den Dunnen
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