Table 1.

Summary of clinical syndromic features of patients 1–3.

	Patient 1	Patient 2	Patient 3
Age (years)	5	2	2
Sex	Female	Male	Male
Birth weight (kg)	3.23 (+2.0 s.d.)	4.340 (+6.8 s.d.)	3.98 (+0.33 s.d.)
Birth length (cm)	52 (+1.5 s.d.)	53 (+1.66 s.d.)	N/A
Head circumference (cm)	37.5 (+2.3 s.d.)	41 (+5.14 s.d.)	N/A
CNS features	Megalencephaly	Megalencephaly	Megalencephaly
	Arnold–Chiari malformation	Arnold–Chiari malformation	Polymicrogyria
		Polymicrogyria
	Hydrocephalus	Hydrocephalus	Hydrocephalus
Seizures	Yes	Yes	Yes
Poly-/syndactyly	Yes	Yes	No
Vascular anomalies	Hyperaemia of face	Cutis marmorata Lower lip angioma	No
	Dorsal haemangioma	Head and neck lymphatic malformations
Developmental delay	Yes, severe	Yes	Yes, severe
Hypotonia	Yes	Yes	Yes
Additional features	Diastasis recti	Rhizomelia	Coarse facial appearance
	Recurrent infections	Laryngomalacia
		Gastroesophageal reflux