Clinical Characteristics

So far all individuals present with ID (10/11) or learning disability (IQ 76 in one individual; 1/11). There was a discrepancy between verbal IQ and nonverbal IQ with verbal IQ scores being higher than nonverbal IQ scores. Fluent speech was acquired by 6/11, phrase speech by 3/11, and single words by 2/11 individuals.

Autism was diagnosed in 8/11 TRIP12 mutation carriers; behavioral anomalies including stereotypic behavior were noted in 8/11 individuals.

Most TRIP12 mutation-positive individuals (8/11) did not show seizures.

Individuals with a TRIP12 mutation did not present with any obvious internal anomalies (0/11), had normal growth parameters and did not display any common hand, feet or other anomalies.

Comparison of the facial phenotype demonstrated that TRIP12 mutations do not lead to recognizable facial features.