The clinical features of TANC2 individuals include:
Neurodevelopment features:
• Intellectual disabilities (borderline to severe ID)
• Learning disabilities
• ASD
• Autistic traits / AS/Rett-like features
• Absent speech / Language delay
• Motor delay
Psychiatric and behavioural problems:
• Motor and behavioural stereotypes
• Reduced tolerance to frustration
• Aggressive behaviour
• ADHD
• Psychiatric features (mood changes, hallucinations, temper tantrums)
• Anxiety
Neurological problems:
• Epilepsy / Seizure episodes
• Sleep disturbance
• Microcephaly
• Brain MRI abnormalities
Systemic comorbidities:
• Chronic or severe constipation
• Vascular alterations
• Strabismus
• Ataxia / spastic ataxia
• Hypotonia
• Joint laxity
• Spinal column deformities
• Limb deformities (club foot, flat valgus foot, talus valgus, inversion in ankles)
• Chest deformities (pectus excavatum, pectus carinatum)
• Cranial alterations / Craniosynostosis (brachycephaly, turricephaly)
Facial dysmorphic features:
• large ears with thick helices
• thick eyebrows with synophrys
• deep-set eyes
• strabismus
• large nose with high nasal bridge
• short and flat philtrum
• large mouth with thin upper lip
• thicker everted lower lip
• widely spaced teeth
• tongue protrusion
• low hairline
TANC2