Table 1A

A comparison of the clinical findings of individuals homozygous for HERC2 c.1781C>T (Pedigree 1A)

	VIII:7	VIII:8	IX:1	IX:6	IX:7	X:1	X:2	X:4	X:5	XI:2	XI:3
Gender	F	M	F	M	F	F	F	F	F	M	M
Age (years)	39	35	24	17	19	13.6	12.6	5.1	6.7	7.8	5.1
Growth Parameters
Birth weight SDS	N/K	N/K	N/K	1.06	1.43	−1.83	−1.08	−1.22	0.30	0.3	−0.09
OFC SDS	−0.37	0.14	N/K	2.98	N/K	−1.77	N/K	−2.63	−1.23	−1.8	−2.7
Development
Speech	100 words	<30 Words	SS	SS	SS	<30 words	10 words	–	SS	Limited	20 words
Walked (years)	4.3	4.3	4	4	4	4	4	–	5	3.5	–
Intellectual disability	Moderate	Moderate/severe	Moderate	Moderate	Moderate	Moderate	Moderate	Moderate/severe	Moderate	Mild	Moderate
Neurology
Childhood hypotonia	+	+	+	+	+	+	+	+	+	+	+
Gait	Arms raised+bent (run)	Arms raised+bent (run)	BB	Arms raised+bent (run)	BB	Arms raised+bent	Arms raised+bent (run)	N/A	Arms raised + bent	Clumsy	N/A
Foot pronation	−	−	N/K	+	+	+	+	N/A	+	+	N/A
Seizures	−	−	−	Absence GM	−	−	−	−	−	−	3xGM
Neuroimaging	CT Normal	N/K	N/K	N/K	CT Normal	CT Normal	N/K	CT Absent post CC	N/K	N/K	MRI Absent post CC
Hyperactivity	+	−	+	+	+	+	+	−	+	+	−
Behavioural characteristics	Affectionate	Aggression Repetitive behaviour		Affectionate Sociable	Affectionate Sociable	Affectionate Sociable	Affectionate Sociable	Interactive Flaps hands	Repetitive behaviour		Irritable Head banging
Physical anomalies
Strabismus	+	−	−	−	−	−	−	+	+	−	+
High narrow palate	+	N/K	+	+	+	+	+	N/K	+	N/K	N/K
Feet	Small	Small	Elongated hallux SG OT	Elongated hallux	N/K	Elongated hallux SG	N/K	SG OT	SG OT	Elongated hallux SG	Elongated hallux SG
Other physical findings	Scoliosis Freq OM	MVP Basal skin syndactyly all digits	Freq OM					Freq OM NGT fed until 4 years			TGA

BB, broad base; CC, corpus callosum; CT, computerised tomography; Freq, frequent; GM, Grand mal seizures; MRI, magnetic resonance imaging; MVP, mitral valve prolapse; N/K, not known; N/A, not available; OFC, occipital frontal circumference; OT, overlapping toes; OM, otitis media; Post, posterior; SG, sandal gap; SDS, standard deviation scores; SS, short sentences; TGA, transposition of the great arteries.