Location: 16p13.3
Gene: THOC6 (THO complex 6), a subunit of the THO complex
Mutation: missense, other
Inheritance: autosomal recessive
Clinical features:
(1) severe intellectual disability
(2) renal anomalies
(3) dental caries, dental malocclusion
(4) cyclical vomiting
(5) variable cardiac malformations
(6) low birth weight
(7) growth failure with short stature
(8) delayed language
(9) variable skeletal anomalies
(10) microcephalus
Dysmorphic facies:
(1) tall forehead
(2) high anterior hairline
(3) deep-set eyes
(4) upslanting palpebral fissures
(5) variable cleft palate
(6) flat philtrum
