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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Deletion LIPH 346_350delATATA Ile116Tyrfs*5 Frame shift mutation & PTC 0/Ali et al.,2007
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Deletion LIPH 659_660TA Ile220Argfs*29 Frame shift mutation & PTC 0/Jelani et al., 2008
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Deletion LIPH 682delT Leu228Trpfs*32 Frame shift mutation & PTC 0/Naqvi et al., 2009
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Missense LIPH 2T>C Met1Thr Amino Acid Substitution 0/Naz et al., 2009
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Missense LIPH 322T>C Trp108Arg Amino Acid Substitution 0/Naz et al., 2009
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Splice site LIPH IVS4-1G>C Exon 5 skipping Frame shift mutation & PTC 0/Kalsoom et al., 2010
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Nonsense LIPH 778A>T Arg260* Premature Termination 0/Tariq et al., 2012
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Nonsense LIPH 328C>T Arg110* Premature Termination 0/Mehmood et al., 2015
Hypotrichosis Type 7 (LIPH) Hypotrichosis Autosomal Recessive 3q27.2 Deletion LIPH 932delC Pro311Leufs*3 Frame shift mutation & PTC 0/Mehmood et al., 2016
Hypotrichosis Type 7 (LIPH) Hypotrichosis/wooly hair Autosomal Recessive 3q27.2 Duplication LIPH 280_369dup90 Gly94_Lys123dup Frame shift mutation 0/Petukhova et al., 2009
Hypotrichosis Type 7 (LIPH) Hypotrichosis/wooly hair Autosomal Recessive 3q27.2 Deletion LIPH 624delT Frame shift mutation 0/Shimomura et al., 2009
Hypotrichosis Type 7 (LIPH) Hypotrichosis/wooly hair Autosomal Recessive 3q27.2 Deletion LIPH Ex7_8del Frame shift mutation 0/Shimomura et al., 2009