All individuals with variants in gene HNMT

12 entries on 1 page. Showing entries 1 - 12.
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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     
00387696 G016 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iraq Kurd - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
00448165 FamAPatIV1 PubMed: Heidari 2015 2-generation family, 4 affected (2F, 2M), unaffected heterozygous parents (first cousin)/relatives F yes Iran Turkey - - - - ID see paper; ..., height 151cm (−2.5 SD), weight 65kg (+1.5 SD), OFC 55cm (Mean); severe intellectual disability (IQ28) 1 4 Johan den Dunnen
00448166 FamAPatIV4 PubMed: Heidari 2015 brother M yes Iran Turkey - - - - ID see paper; ..., height 172cm (−0.8 SD), weight 71kg (+0.7 SD), OFC 54.5cm (−1.46 SD); moderate intellectual disability (IQ49) 1 1 Johan den Dunnen
00448167 FamAPatIV6 PubMed: Heidari 2015 sister F yes Iran Turkey - - - - ID see paper; ..., height 153cm (−2.2 SD), weight 63kg (+1.2 SD), OFC 55cm (Mean); severe intellectual disability (IQ25) 1 1 Johan den Dunnen
00448168 FamAPatIV8 PubMed: Heidari 2015 brother M yes Iran Turkey - - - - ID see paper; ..., height 170cm (−1.2 SD), weight 69kg (+0.6 SD), OFC 54cm (−1.46 SD); mild intellectual disability (IQ54) 1 1 Johan den Dunnen
00448169 FamBPatIII1 PubMed: Heidari 2015 2-generation family, 3 affected (F, 2M), unaffected heterozygous parents (first cousin)/relatives M yes Germany Kurdish - - - - ID see paper; ..., height 165cm (−1.8 SD), weight 56kg (+0.2 SD), OFC 54cm (−1.5 SD); severe intellectual disability (IQ20–34) 1 3 Johan den Dunnen
00448170 FamBPatIII3 PubMed: Heidari 2015 sister F yes Germany Kurdish - - - - ID see paper; ..., height 151cm (−2 SD), weight 44kg (+0.2 SD), OFC 52cm (−1.7 SD); severe intellectual disability (IQ20–34) 1 1 Johan den Dunnen
00448171 FamBPatIII4 PubMed: Heidari 2015 brother M yes Germany Kurdish - - - - ID see paper; ..., height 138cm (−2.1 SD), weight 40kg (+0.8 SD), OFC 52cm (−1.7 SD); severe intellectual disability (IQ20-34) 1 1 Johan den Dunnen
00448172 controls PubMed: Preuss 1998 - - - - - - - - - Healthy/Control - 1 2 Johan den Dunnen
00448173 control PubMed: Preuss 1998 - - - United States - - - - - Healthy/Control - 1 20 Johan den Dunnen
00448174 control PubMed: Preuss 1998 - - - United States - - - - - Healthy/Control - 1 5 Johan den Dunnen
00448175 controls PubMed: Preuss 1998 - - - United States - - - - - Healthy/Control - 1 38 Johan den Dunnen
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