All individuals with variants in gene SFTPA1

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00265344 Fam2PatIV1 PubMed: Dias 2019 - M yes Iran - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; gastrointestinal symptoms 1 3 Caroline Dias
00295609 - PubMed: Nathan 2016 - M no France - >53y - see report - IPF adenocarcinoma, idiopathic interstitial pneumonitis (IIP) 1 2 Joanne van der Vis
00295615 - PubMed: Nathan 2016 - F - France - >58y - - - IPF - 1 1 Joanne van der Vis
00295617 - PubMed: Doubkova 2019 - M no Czech Republic - 57y - - - IPF interstitial pneumonitis, not necessarily IPF 1 1 Joanne van der Vis
00295618 - PubMed: Pradipkumar 2017 - M ? India - >46y - - - IPF interstitial pneumonitis, not necessarily IPF 1 1 Joanne van der Vis
00295620 - PubMed: Takezaki 2019 - M yes Japan - 32y - - - IPF interstitial pneumonitis, not necessarily IPF 1 1 Joanne van der Vis
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