Table 1 Classification of 260 cases based on clinical diagnosis and predominant features

Clinical diagnosis category	n	Sex^a		Age at DNA collection^b		Country				Variant^c
Clinical diagnosis category	n	F	M	Median	IQR	JPN	BRA	ISR	Others	ES-resolvable	ES-unresolvable
West syndrome	46	18	28	1	[2-0]	41	0	5	0	4	2
Cornelia de Lange syndrome	18	8	10	12	[21-5]	0	18	0	0	1	0
Early infantile epileptic encephalopathy	11	7	3	0	[2-0]	9	0	1	1	1	2
Lennox–Gastaut syndrome	6	3	3	15	[35-5]	6	0	0	0	0	0
Joubert syndrome	6	2	4	1	[19-0]	6	0	0	0	3	1
Dravet syndrome	5	0	5	5	[7-3]	5	0	0	0	1	1
Rett syndrome	4	2	2	6	[9-5]	4	0	0	0	0	1
M-CM syndrome	3	2	1	6	[8-3]	3	0	0	0	0	0
Inherited GPI deficiency	2	1	1	20	[23-16]	2	0	0	0	0	2
PEHO syndrome	2	2	0	4	[5-4]	1	0	0	1	1	0
Claes-Jensen syndrome	1	0	1	6	–	0	1	0	0	0	1
Donnai-Barrow syndrome	1	1	0	1	–	0	1	0	0	1	0
Spinocerebellar degeneration	1	1	0	6	–	1	0	0	0	0	0
Fraser syndrome	1	0	1	13	–	0	1	0	0	0	0
Neuronal ceroid lipofuscinosis	1	1	0	10	–	1	0	0	0	1	0
Shprintzen-Goldberg syndrome	1	1	0	11	–	0	1	0	0	1	0
Unclassified DD/ID syndrome (grouped by predominant feature)
Epilepsy	79	35	44	4	[8-2]	59	1	19	0	4	7
Cerebellar abnormalities	18	8	10	10	[17-4]	18	0	0	0	3	0
Cortical and cerebral malformations	9	5	4	7	[9-1]	9	0	0	0	2	0
White matter abnormalities	6	2	4	6	[8-3]	5	0	0	1	2	1
Involuntary movements	5	4	1	18	[21-11]	5	0	0	0	0	0
Other or non-specific features	34	18	15	9	[13-3]	20	14	0	0	6	6
Total	260	121	137	4	[10-1]	195	37	25	3	31	24

IQR interquartile range, JPN Japan, BRA Brazil, ISR Israel, M-CM Macrocephaly-capillary malformation, GPI glucose phosphate isomerase, PEHO progressive encephalopathy with edema, hypsarrhythmia and optic atrophy.
^aUnavailable for 11/260 cases.
^bUnavailable for 2/260 cases.
^cES was assumed to detect small variants with a median depth 8 or more in the gnomAD ES data, as well as CNVs spanning 3 or more exons and exonic MEIs. ES-resolvable: all variants reported in Table 2 are theoretically detectable by ES for respective cases.

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