×

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 6 (DSG4) Hypotrichosis Autosomal Recessive 18q21.1 Gross Deletion DSG4 Ex5_8 del Truncated Protein Frame shift mutation 0/kljuic et al., 2003; Rafiq et al., 2004
Hypotrichosis Type 6 (DSG4) Hypotrichosis Autosomal Recessive 18q21.1 Deletion DSG4 87delG p.Lys30Argfs*54 Frame shift mutation & PTC 0/wajid et al., 2007
Hypotrichosis Type 6 (DSG4) Hypotrichosis Autosomal Recessive 18q21.1 Deletion DSG4 85-1_191 Truncated Protein Frame shift mutation 0/Ullah et al., 2015