A patient with a novel CNTNAP2 homozygous variant

List of key featuresBulbous nasal tipFull cheeks and lipsSlightly everted lower lipComplex focal seizuresDevelopmental delayStereotypic movementsIntroductionThe CASPR2 deficiency syndrome (MIM #610042) is an ultra-rare autosomal recessive condition characterized by moderate-to-severe intellectual di