Table 2.

Major clinical findings for all three reported patients

	Case 1 (14 years)	Case 2 (21 years)	Case 3 (19 years)
	- two spontaneous abortions	- male twin: facial dysmorphism severe early delay; death at 18 months of age
	- one maternal uncle with ID	- one brother: facial dysmorphism severe developmental delay, seizures, autistic features, death at 23 years of age
Physical data
(at birth)
GW	40	39	40
L (cm)	49 (50 pc)	Not known	51 (50 pc)
BW (g)	2400 (10 pc)	3000 (50 pc)	3780 (75 pc)
HC (cm)	36 (50 pc)	Not known35	(50 pc)
Early development
Walking (months)	18	13	15
Speech onset (years)	5 (few words) → 12 (fair)	4	3
Behaviour	Difficulty of separation and isolation	Hyperactivity	Tantrum
School age
Neurological condition	Normal	Normal	Normal
Learning	Difficulties	Difficulties	Difficulties
Intelligence	Moderate (IQ 41)	Borderline (IQ NA)	Borderline (IQ 80 when 6 years)
Communication/social conduct	Difficulties	Good	Difficulties (since 3 years)
Behaviour	Quiet and withdrawn	Hyperactivity, attention deficit, impulsiveness	Hyperactivity
Adolescence
Neurological condition
Motor coordination	Fair	Poor	Fair
Hypotonia/joint laxity	Yes	Yes	Yes
Intelligence	Scarce (IQ NA)	Borderline (IQ 84 when15 years)	Mild (IQ 57 when17 years)
Communication/social conduct	Difficulties	Difficulties	Difficulties
Behaviour	Quiet and meek	Hyperactive, anxious, mood disorder	Anxious, depressive mood
Dysmorphic features	Minor facial dymorphisms (broad nasal bridge, prognatism, mild ocular hypertelorism)	Minor facial dysmorphisms (broad nasal bridge, prognatism)	None
Diagnostics
EEG	Normal	NA	Posterior slow waves
MRI	Normal	NA	Normal

GW: gestational age; L: length; BW: body weight; HC: head circumference; IQ: intelligence quotient (ascertained according to WISC-R scale); ID: intellectual disability; NA: not ascertained.