All individuals with variants in gene SECISBP2

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00457657 Fam1PatII1 PubMed: Stoupa 2024 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - - - - - - - NDD see paper; ..., height low, weight low, BMI low; delayed bone age; no hypotonia, no motor disability; no intellectual disability; good speech; no seizures; no autism spectrum disorder; normal ambulation; no feeding issue; delayed puberty; normal aortic root; no frequent infections 2 2 Johan den Dunnen
00457658 Fam1PatII2 PubMed: Stoupa 2024 sister F - - - - - - - NDD see paper; ..., height low, weightvery low, BMI low; no hypotonia, no motor disability; good speech; no seizures; no autism spectrum disorder; normal ambulation; feeding issues; prepubertal; no frequent infections 2 1 Johan den Dunnen
00457659 Fam2PatII1 PubMed: Stoupa 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Hispanic - - - - NDD see paper; ..., height low, weight low, BMI low; delayed bone age; hypotonia, motor disability; intellectual disability; nonverbal; seizures; autism spectrum disorder; MRI brain normal; abnormal ambulation; no feeding issue; prepubertal; mild hearing deficits; normal aortic root; frequent infections ear 2 2 Johan den Dunnen
00457660 Fam3PatII4 PubMed: Stoupa 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Bolivia - - - - - NDD see paper; ..., height low, weight normal, BMI normal; hypotonia, motor disability; intellectual disability; nonverbal; no seizures; autism spectrum disorder; MRI brain normal; abnormal ambulation; no feeding issue; mild hearing deficits; no frequent infections 2 1 Johan den Dunnen
00457661 Fam4PatII2 PubMed: Stoupa 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes - Middle-East - - - - NDD see paper; ..., height low, weight low, BMI low; hypotonia, motor disability; intellectual disability; nonverbal; seizures; MRI brain normal; not yet ambulant; feeding issues; prepubertal; mild hearing deficits; bovine aortic arch; frequent respiratory infections 1 1 Johan den Dunnen
00457662 Fam5PatII1 PubMed: Stoupa 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Palestine - - - - - NDD see paper; ..., height low, weight normal, BMIhigh; delayed bone age; hypotonia, motor disability; intellectual disability; delayed speech; no seizures; no autism spectrum disorder; abnormal ambulation; no feeding issue; prepubertal; mild to moderate hearing deficits; frequent respiratory infections 1 1 Johan den Dunnen
00457663 Fam PatII26 PubMed: Stoupa 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes - Guinea - - - - NDD see paper; ..., height low (catch-up with treatment), weight low (catch-up with treatment), BMI low; delayed bone age; hypotonia, motor disability; intellectual disability; delayed speech; no seizures; autism spectrum disorder; MRI brain normal; normal ambulation; feeding issues; secondary ovarian failure; normal aortic root; no frequent infections 1 1 Johan den Dunnen
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