Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression

Table 1 Comparison of the phenotype of SMS431 to the prominent features of 2q23.1 deletion syndrome

2q23.1 deletion syndrome	SMS431*
Developmental delay	+
Motor delay	+
Language impairment	+
Behavioral problems	+
Autistic-like symptoms	+
Sleep disturbances	+
Repetitive behaviors (stereotypies)	+
Self-injurious behaviors	+
Short attention span	+
Aggression	+
Seizures	+
Infantile hypotonia	+
Infantile feeding difficulties	+
Eye abnormalities	+
Heavy arched eyebrows	-
Prominent nose	-
Thin upper lip	+
Widely spaced teeth	-

ISSN: 1755-8166