Table 1.

Clinical characteristics of the patients

Patient	Patient 1	Patient 2	Mother
Age	11 years	10 years	38 years
Gender	Male	Male	Female
Prenatal history	41 weeks, 2500g, NSVD Infantile hypotonia	41 weeks, 3000g, C/sec
Gross motor of K-CDR	30 month function	30 month function
Fine motor of K-CDR	20 month function	22 month function
Self-help level of K-CDR	24 month function	12 month function
Social level of K-CDR	18 month function	16 month function
Language development of K-CDR	14 month function	14 month function
Mental scale of BSID II	24 month function	9 month function
Motor scale of BSID II	14 month function	12 month function
K-WAIS-IV			77 (6th percentile)
Head and face	Brachycephaly Large & Low set ears Nose with upturned nares	Midface hypoplasia Large ears Low nasal bridge	Prominent lips
Autism or autistic features	O	O	X
Generalized hypotonia	O	O	X
Choreiform movements	O	O	X
Progressice spasticity	O	O	X
Drooling	O	O	X
Bruxism	O	X	X
Brain-MRI finging	normal	Normal	None
Recurrent infecition	Pneumonia and gastroenteritis	Pneumonia	None
Medical problem	Epilepsy treated with oxycarbamazepine	Epilepsy treated with valproate	Narcolepsy treated with modafinil and SSRI

BSID II Bayley Scales of Infant Development test II, C/sec Cesarean section, K-CDR Korean-Child Development Review, K-WAIS-IV Korean Wechsler Adult Intelligence Scale fourth edition, NSVD normal spontaneous vaginal delivery, SSRI selective serotonin reuptake inhibitor