All individuals with variants in gene PISD

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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     
00204189 Pat1;? PubMed: Girisha 2019, PubMed: Jacob 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - skeletal dysplasia see paper; ..., spondyloepimetaphyseal dysplasia; poor suck, inadequate weight gain, kyphosis; 2y11m-no intellectual disability, normal motor development, normal speech, OFC 43 cm (-4 SD), length 74 cm (-4 SD), weight 7.5 Kg (-3.3 SD), mild facial dysmorphism, small/pointed chin, retrognathia 1 1 Katta M Girisha
00469810 Pat2;? PubMed: Girisha 2019, PubMed: Jacob 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents M no India - - - - - skeletal dysplasia see paper; ..., 9y-normal developmental milestones, no intellectual disability, OFC 49.5 cm (-3 SD), height 120 cm (-3.3 SD), weight 30 kg (normal), bulbous nose, long philtrum, mild retrognathia, bilateral mild hallux valgus, mild waddling gait 1 1 Johan den Dunnen
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