All individuals with variants in gene NPR2

61 entries on 1 page. Showing entries 1 - 61.
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00029678 - - - - - - - - - - - stature, short - 1 1872 Sophie Ran Wang
00029806 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029807 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029808 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029809 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029810 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029811 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029812 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029813 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029814 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029815 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029816 - - - - - - - - - - - stature, tall - 1 1 Sophie Ran Wang
00029817 - - - - - - - - - - - stature, tall - 1 1 Sophie Ran Wang
00029818 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029819 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00029820 - - - - - - - - - - - stature, short - 1 1 Sophie Ran Wang
00033815 15146390-Pat1 PubMed: Bartels 2004 family, heterozygous carriers have heights below mean for matched controls - yes Brazil Brazil - - - - AMD1 Acromesomelic dysplasia Maroteaux type (AMDM); height mother 162cm, height father 168cm 1 1 Irfan Ullah
00033849 15146390-Pat2 PubMed: Bartels 2004 - - yes Turks and Caicos Islands Turkish - - - - AMD1 Acromesomelic dysplasia Maroteaux type (AMDM) The father of affected individuals showed height below normal i.e. 170 cm (normal 175.1) 1 1 Irfan Ullah
00033850 15146390-Pat3 PubMed: Bartels 2004 - ? no United States United States - - - - AMD1 - 2 1 Irfan Ullah
00033852 15146390-Pat4 PubMed: Bartels 2004 - - yes India East Indian - - - - AMD1 - 1 1 Irfan Ullah
00033853 15146390-Pat5 PubMed: Bartels 2004 - - - Pakistan - - - - - AMD1 - 1 1 Irfan Ullah
00034037 15146390-Pat9 PubMed: Bartels 2004 - - yes (Turkey) Turkish - - - - AMD1 - 1 1 Irfan Ullah
00034038 15146390-Pat10 PubMed: Bartels 2004 - - no United States United States - - - - AMD1 - 2 1 Irfan Ullah
00034040 15146390-Pat11 PubMed: Bartels 2004 - - yes Netherlands Dutch - - - - AMD1 - 1 1 Irfan Ullah
00034379 15146390-Pat12 PubMed: Bartels 2004 - - - Turkey Turkish - - - - AMD1 - 1 1 Irfan Ullah
00034380 15146390-Pat13 PubMed: Bartels 2004 - - yes - - - - - - AMD1 - 1 1 Irfan Ullah
00034381 15146390-Pat14 PubMed: Bartels 2004 - - yes Netherlands Dutch - - - - AMD1 - 1 1 Irfan Ullah
00034382 15146390-Pat15 PubMed: Bartels 2004 - - - - - - - - - AMD1 - 1 1 Irfan Ullah
00034383 15146390-Pat16 PubMed: Bartels 2004 - - - Germany German - - - - AMD1 - 1 1 Irfan Ullah
00034542 15146390-Pat17 PubMed: Bartels 2004 - - yes Lebanon Lebanes - - - - AMD1 - 1 1 Irfan Ullah
00034543 15146390-Pat18 PubMed: Bartels 2004 - - yes Turkey Turkish - - - - AMD1 - 1 1 Irfan Ullah
00034544 15146390-Pat19 PubMed: Bartels 2004 - - yes Oman Arab - - - - AMD1 - 1 1 Irfan Ullah
00034545 15146390-Pat20 PubMed: Bartels 2004 - - no - - - - - - AMD1 - 2 1 Irfan Ullah
00034546 15146390-Pat21 PubMed: Bartels 2004 - - yes Lebanon Lebanes - - - - AMD1 - 1 1 Irfan Ullah
00034547 16384845-proband PubMed: Olney 2006 - F - - - - - - - AMD1 - 1 1 Irfan Ullah
00034548 17652215-FamPatIV3 PubMed: Hachiya 2007 - M yes Japan Japanese - - - - AMD1 - 1 1 Irfan Ullah
00038377 22691581-FamA PubMed: Khan 2012 5-generation family, 7 affwcteds (2F, 5M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … 1 7 Irfan Ullah
00038378 22691582-FamF PubMed: Khan 2012 4-generation family, 3 affwcteds (2F, M), unaffected heterozygous relatives - yes Pakistan Sindhi - - - - AMD1 see paper; … 1 3 Irfan Ullah
00038379 Family A - - - yes Pakistan Pashtoon - - - - AMD1 - 1 1 Irfan Ullah
00038380 Family B - - - yes Pakistan Pashtoon - - - - AMD1 - 1 1 Irfan Ullah
00038381 24001744-FamAPatII1 PubMed: Vasques 2013 2-generation family, affected father and daughter/son M - - - - - - - stature, short see paper; … 1 3 Irfan Ullah
00038382 24001744-FamBPatIII1 PubMed: Vasques 2013 3-generation family, 4 affecteds (F, 3M) M - - - - - - - stature, short see paper; … 1 4 Irfan Ullah
00038383 24001744-FamCPat3 PubMed: Vasques 2013 2-generation family, 1 affected - - - - - - - - stature, short see paper; ... 1 1 Irfan Ullah
00038719 22870295-FamPatIII1 PubMed: Miura 2012 3-generation family, affected grandmother, mother and son, PatIII1 M no Japan - - - - - stature, tall see paper; ... 1 3 Irfan Ullah
00038720 24057292-FamPatIII3 PubMed: Hannema 2013 4-generation family, 1 affected, parents not available M no Netherlands - - - - - stature, tall see paper; ... 1 1 Irfan Ullah
00038721 24259409-FamPatIV2 PubMed: Miura 2014 4-generation family, 11 affected (4F, 7M) M no Korea, South (Republic) - - - - - stature, tall see paper; ... 1 11 Irfan Ullah
00038722 24471569-FamPat1 PubMed: Amano 2014 2-generation family, affected mother/son M - Japan Japanese - - - - stature, short see paper; ... 1 2 Irfan Ullah
00038723 24471569-FamPat2 PubMed: Amano 2014 2-generation family, affected mother/daughter F - Japan Japanese - - - - stature, short see paper; ... 1 2 Irfan Ullah
00108744 - - - - - - - - - - - AMD1 - 2 1 Dong Li
00110427 22691581-FamB PubMed: Khan 2012 6-generation family, 3 affwcteds (3M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … 1 3 Johan den Dunnen
00110428 22691581-FamC PubMed: Khan 2012 6-generation family, 3 affwcteds (2F, M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … 1 3 Johan den Dunnen
00110429 22691581-FamD PubMed: Khan 2012 6-generation family, 5 affwcteds (F, 4M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … 1 5 Johan den Dunnen
00110430 22691581-FamE PubMed: Khan 2012 5-generation family, 5 affwcteds (4F, M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … 1 5 Johan den Dunnen
00110431 24471569-Pat3 PubMed: Amano 2014 - ? - Japan - - - - - stature, short - 1 1 Johan den Dunnen
00179511 FamNAD-08 PubMed: Ain 2019 5-genration family, 6 affected (F, 5M), heterozygous carriers with slightly short hands and feet F;M yes Pakistan - - - - - AMD1 see paper; ..., markedly short forearms, short and broad fingers and toes and broad forehead, broad face, limited extension elbows, normal motor milestones 1 5 Noor-ul-ain Ain
00179513 FamNAD-09 PubMed: Ain 2019 4-generation family, 4 affected (F, 3M), heterozygous carriers have short hands and feet F;M yes Pakistan - - - - - AMD1 see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones, severe pain in back for last few years; heterozygous carriers have short hands and feet 1 4 Noor-ul-ain Ain
00179514 FamMid-02 PubMed: Ain 2019 4-generation family, 4 affected sisters F yes Pakistan - - - - - AMD1 see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones 1 4 Noor-ul-ain Ain
00179516 FamFD-01 PubMed: Ain 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Finland - - - - - AMD1 see paper; ..., broad forehead, low nasal bridge, markedly short forearms short and broad fingers and toes, limited extension elbows, normal motor milestones 2 2 Noor-ul-ain Ain
00331529 15DG1164 PubMed: Maddirevula 2018 isolated case F yes - - - - - - skeletal dysplasia Non-Arab ( Depressed nasal bridge, Hypertelorism, Bilateral postaxial polydactyly 1 1 LOVD
00419622 20130 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00459491 TID-09 V:1 - - F yes Pakistan - - - - - AMD1 - 1 2 Amatul Raqeeb Jawaid
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