TABLE 1.

Characteristics of the study population

Original ES report outcome	Gender		Median age at initial report date	Deceased at time of referral	Referral indication
	Female	Male			Syndromic Neurodevelopmental Disorder	Non‐Syndromic Neurodevelopmental Disorder	Multiple Congenital Anomalies	Single System Disorder
Diagnosed (36)	18	18	3 years (101 days to 43 years)	1 (2.8%)	25	2	1	8 (ophthalmology 3, renal 3, dermatology 1, metabolic 1)
Undiagnosed (75)	33	42	3.5 years (31 days to 47 years)	5 (6.7%)	37	3	7	28 (neurology 11, gastroenterology 4, ophthalmology 4, dermatology 2, oncology 2, respiratory 1, renal 1, immunology 1, endocrinology 1, growth 1)