Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

Table 1 Clinical characteristics of patients with suspected Angelman syndrome

	Number of patients	Percentage (%)
Gender	33 male; 17 female
Hypotonia		100
Neck support	(32/50)	64
Walk without support	(21/50)	42
Sitting without support	(38/50)	76
Absent speech	(40/50)	80
Developmental delay	50/50)	100
Severe mental retardation	(50/50)	100
Microcephaly	(44/50)	88
Macrostomia	(40/50)	80
Clinical seizures	(44/50)	88
Occipital groove	(45/50)	90
Protruding tongue	(43/50)	86
Wide-spaced teeth	(35/50)	70
Prognathism	(40/50)	80
Unusually light hair or skin color	(13/50)	26
Easily provoked laughter	(50/50)	100
Hyperactivity	(48/50)	96
Gastro-esophageal reflux	(40/50)	80
Ataxic movements	(48/50)	96
Frequent drooling	(47/50)	94
History of sleep difficulties	(45/50)	90
Fascination with water	(40/50)	80
Autistic behavior	(14/50)	28