Mutations in TTC5 are associated with a number of clinical features, including intellectual disability.
Chromosome: 14q11.2
Gene: TTC5 (tetratricopeptide repeat domain 5)
Inheritance: autosomal recessive
Clinical features:
(1) intellectual disability with severe speech impairment
(2) abnormal brain MRI with cerebral atrophy
(3) hypotonia with variable spasticity
(4) epilepsy
(5) inability to stand and walk independently
(6) intrauterine growth retardation
(7) short stature
Facial dysmorphism may include:
(1) prominent forehead
(2) broad arched eyebrows
(3) hypertelorism
(4) up slanted or down slanted palpebral fissures
(5) strabismus
(6) proptosis
(7) short nose
(8) depressed nasal bridge
(9) bulbous tip of nose
(10) anteverted nose
(11) long philtrum
(12) full cheeks
(13) downturned mouth
