Table 1: Identified TBCK gene mutation.
Disease |
Inheritance pattern |
Gene |
Position |
Isoform |
Nucleotide |
Zygosity |
Type and classification |
Infantile hypotonia with psychomotor retardation and characteristic facies 3 [MIM:616900] |
AR |
TBCK |
chr4: 10711587 |
NM_001163435. 1 |
1897+1G > A |
HOM |
Splicing Pathogenic (class 1) |