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)