×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Acromesomelic Dysplasia, Grebe type (GDF5) Extremely short hands,toe-like finger etc Autosomal Recessive 20q11.22 Insertion GDF5 (CDMP1) 297insC Frame shift mutation 0/Faiyaz-Ul-Haque et al., 2002
Acromesomelic Dysplasia, Grebe type (GDF5) Extremely short hands,toe-like finger etc Autosomal Recessive 20q11.22 Insertion GDF5 (CDMP1) 1114insGAGT Frame shift mutation 0/Basit et al., 2008
Acromesomelic Dysplasia, Grebe type (GDF5) Extremely short hands,toe-like finger etc Autosomal Recessive 20q11.22 Duplication GDF5 (CDMP1) 157_158dupC Leu53Profs*41 Frame shift & PTC 0/Umair et al., 2016
Acromesomelic Dysplasia, Grebe type (GDF5) Extremely short hands,toe-like finger etc Autosomal Recessive 20q11.22 Nonsense GDF5 (CDMP1) Trp291* Premature Termination 0/Umair et al., 2016