. 2015 Dec 3;97(6):886–893. doi: 10.1016/j.ajhg.2015.11.002

Table 1.

Clinical Features of Individuals with the SLC39A8 Homozygous Mutation c.112G>C (p.Gly38Arg)

Family	Family A	Family B	Family C	Family D		Family E	Family F
Individual	1	2	3	4	5	6	7	8
Sex	F	M	M	F	F	M	F	M
Ethnicity	Hutterite-D	Hutterite-D	Hutterite-S	Hutterite-S	Hutterite-S	Hutterite-S	Egyptian	Egyptian
Current age (years)	18	23	10	6	6	9	9	3
Age at last exam (years)	13	17	8	5	5	9	8	2

Growth

Birth length	50^th–75^th	5^th–10^th	5^th–10^th	<5^th	<5^th	ND	normal^a	normal^a
Birth weight	50^th	50^th	25^th–50^th	<5^th	<5^th	50^th–75^th	normal^a	normal^a
Birth OFC	90^th	50^th	normal^a	<5^th	<5^th	>95^th	normal^a	normal^a
Height	−3 to −4 SD	−3 to −4 SD	−3 SD	5^th	5^th	<5^th	5^th	5^th
Weight	−4 SD	−4 SD	−3 SD	10^th	10^th	25^th–50^th	25^th	5^th
OFC	50^th	50^th	50^th	25^th–50^th	25^th–50^th	95^th	50^th	50^th

Development

Head Control (years)	2	4	2	2	2	2	no	no
Sit (years)	7	with support	3	with support	with support	with support	no	no
Walk (years)	no	no	no	no	assisted	no	assisted	no
Intellectual disability	profound	profound	severe	profound	profound	profound	severe	severe

Clinical Features

Hypotonia	profound	profound	severe	severe	severe	severe	severe	severe
Strabismus	yes	yes	yes	yes	yes	no	yes	yes
Seizures	no	no	no	no	no	yes	myoclonic	no
Other	recurrent infections, joint hypermobility	recurrent infections, joint hypermobility	constipation	recurrent infections	recurrent infections	recurrent infections	hyperreflexia	hyperreflexia

Imaging

Skeletal	osteopenia	osteopenia, flat and broad long bone epiphyses	normal skeletal survey at 16 months	ND	ND	ND	ND	ND
MRI	severe atrophy of the cerebellar vermis and hemispheres	severe atrophy of the cerebellar vermis and hemispheres	severe atrophy of the cerebellar vermis and hemispheres	severe atrophy of the cerebellar vermis and hemispheres	ND	progressive atrophy of the cerebellar vermis and hemispheres	severe atrophy of the cerebellar vermis and hemispheres	mild atrophy of the cerebellar vermis and hemispheres; cerebral atrophy, particularly of the frontal lobes
MRS	ND	ND	ND	normal	ND	elevated lactate peak	ND	ND

Abbreviations are as follows: Hutterite-D, Hutterite Dariusleut; Hutterite-S, Huterite-Schmiedeleut; ND, no data.

Reported as normal.