Individuals with TMCO1 Defect Syndrome can expect to have a normal birth weight but low muscle tone, and poor feeding. As they learn to develop, they will start to show signs of developmental and intellectual delay with abnormal speech that can sound loud and horse. Specific features include tall stature, highly arched eyebrows, long eyelashes, abnormal head shape, and small primary teeth with overgrowth of gums. They may also have missing or extra ribs, deformity of the scapula, and clubfeet along with others. Abnormal brain imaging and heart defects may also be present. These patients were also observed to have behavioral problems including irritability in childhood as well as depression and anxiety throughout development.
TMCO1