TANC2

Clinical Characteristics for Families

The neurodevelopmental phenotype of TANC2 individuals is characterized by intellectual disability, ASD, autistic traits reminiscent of the AS/Rett-like spectrum phenotype, speech absence/language delay, and facial dysmorphisms. Facial dimorphic features include large ears with thick helices, thick eyebrows with synophrys, deep-set eye, strabismus, large nose with high nasal bridge, short and flat philtrum, large mouth with this upper lip and thicker everted lower lip, widely spaced teeth and tongue protrusion and low hairline.
Other clinical features are motor delay, epilepsy or seizure episodes,  constipation, vascular alterations with cyanotic extremities, ataxia/spastic ataxia, skeletal anomalies, strabismus, progressive scoliosis or hyperkyphosis, chest deformities,  foot deformities, cranial alteration/craniosynostosis, hypotonia, hypermobility joints.
Mild neurodevelopmental phenotype and/or psychiatric manifestations (eg. anxiety, mood instability, hallucination, depression) have been reported in some carrier parents.

An extensive description of the clinical spectrum of TANC2 patients can be found in the section Professionals – Clinical characteristics .