TABLE 1.

Clinical features of patients with hemizygous RNF113A variants

Clinical feature	IV-2 (Corbett et al., 2015)	IV-5 (Corbett et al., 2015)	This paper, patient 1	This paper, patient 2
Age at last review	15 years	9 years	11 years 10 months	16 months
Birth parameters	2.18 kg/31 cm @36 weeks (<10th/25th centile)	2.32 kg/29 cm @38 weeks (<3rd centile)	Not known	1.9 kg @39 weeks (<1st centile)
Growth parameters
Height	112 cm	117 cm	121 cm (<1st centile)	68 cm (<1st centile)
Weight	24 kg	19.5 kg	24.3 kg (<1st centile)	5 kg (<1st centile)
OFC	44.5 cm (<1st centile)	44 cm (<1st centile)	50 cm (5th centile)	36 cm (<1st centile)
Development
Motor	Delayed	Delayed	Walked at 7 years	Delayed
Speech	Delayed	Delayed	Single words	Delayed
Gonadal dysgenesis	Microphallus; absent testes	Absent/rudimentary testes	Microphallus/cryptorchidism	Microphallus/cryptorchidism/hypospadias/bifid scrotum
Endocrine abnormality	High TSH; normal GH	LowT4/high TSH Low ADH Low cortisol Normal GH High LH, FSH Low testosterone	High TSH, low/Normal T4 High LH, FSH, prolactin Low testosterone Normal IGF1, IGFBP3 Normal cortisol	Normal T4/TSH Normal ACTH Normal 17 hydroxyprogesterone Normal cortisol
Infections	Frequent hospitalizations	Frequent infections; chronic diarrhea; low IgG1	Frequent infections; low IgG1	Frequent infections
CNS findings	Cerebellar hypoplasia Cerebral atrophy Absent corpus callosum	Cerebellar hypoplasia Absent corpus callosum	Thin corpus callosum	Absent corpus callosum
Other structural findings	Short esophagus; ureteric obstruction		Duodenal strictures	Multicystic dysplastic kidney
Hair analysis	Tiger-tail pattern	Tiger-tail pattern	Atypical bands	Not done
Photosensitivity	Nil	Nil	Nil	Nil
Ichthyosis	Nil	Nil	Nil	Nil
Ocular abnormalities	Nil	Nil	Cortical visual impairment	Nil
RNF113A variant	p.(Gln301*)	p.(Gln301*)	p.(Gln302fs*12)	p.(Cys299*)

Abbreviation. CNS, central nervous system.