All individuals with variants in gene FXR1

5 entries on 1 page. Showing entries 1 - 5.
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00240378 Fam1 PubMed: Estan 2019 5-generation family, 3 affected sibs (, unaffected heterozygous carrier parents/relatives F;M - Egypt - - 0 - - MYOP see paper; ... 1 3 Johan den Dunnen
00240379 Fam2 PubMed: Estan 2019 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Canada - - 0 - - MYOP see paper; ..., neonatal hypotonia, delayed gross motor milestones, mild/moderate obstructive sleep apne 1 3 Johan den Dunnen
00275622 FamAP51Pat1 PubMed: Santos-Cortez 2018 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - ID OFC 53cm; IQ 30, severe intellectual disability (HP:0010864); alopecia 1 3 Johan den Dunnen
00275623 FamAP51Pat3 PubMed: Santos-Cortez 2018 - F yes Pakistan - - 0 - - ID OFC 53cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275624 FamAP51Pat4 PubMed: Santos-Cortez 2018 - F yes Pakistan - - 0 - - ID OFC 54cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
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