. 2015 Feb 5;96(2):245–257. doi: 10.1016/j.ajhg.2014.12.013

Table 1.

Clinical, Biochemical, and Neuroradiological Findings in Individuals with Mutations in CLPB

Individual, Gender	Family	ID	Change (aa)	Neutropenia	Generalized Brain Atrophy	Movement Disorder	Muscle Tone	Cataracts	3-MGA-Uria	Current Age	Other
#1, m	1	no	p.Met411Ile and p.Tyr617Cys	CS	ND	−	normal	-	+	10 years
#2, f	1	no	p.Met411Ile and p.Tyr617Cys	CM	−	−	normal	+	+	8 years
#3, m	2	moderate	p.Arg408Gly and p.Arg417^∗	IS	ND	ataxia	floppy infant, mild truncal hypotonia	−	+	5 years 9 months	neonatal hypoglycaemia, microcephaly
#4, m	2	moderate	p.Arg408Gly and p.Arg417^∗	−	ND	−	floppy infant, mild truncal hypotonia	+	+	2 years 2 months	neonatal hypoglycaemia, microcephaly
#5, f	2	moderate	p.Arg408Gly and p.Arg417^∗	−	ND	−	floppy infant, mild truncal hypotonia	−	+	2 years 2 months	neonatal hypoglycaemia, microcephaly
#6, f	4	mild	p.Glu435_Gly436delinsAspPro and p.Gly646Val	CM	+^a	ataxia, dysarthria, tremor	mild tetraspasticity	+	+	18 years	microcephaly, hypothyreoidea, hypergonadotropic hypogonadism
#7, f	5	severe	p.Cys486Arg homozygous	−	+	dystonia	floppy infant, progressive tetraspasticity	+	+	17 years	microcephaly IUGR, epilepsy, hypothyreoidea, mild cardiac septal hypertrophy, nystagmus
#8, f	5	severe	p.Cys486Arg homozygous	−	+	dystonia, athetosis	floppy infant, progressive tetraspasticity	−	+	9 years	microcephaly, epilepsy, nystagmus
#9, f	6	severe	p.Ala591Val homozygous	CS	+	hyperkinesia, dystonia	floppy infant, progressive tetraspasticity	+	+	3 years 10 months^b	microcephaly, IUGR, neonatal hypoglycaemia, life-threatening drooling
#10, m	7	severe	p.Tyr272Cys and p.Tyr567Cys	CS	+	−	floppy infant, progressive tetraspasticity	ND	ND	3 months^b	hepatosplenomegaly, leukemia, facial dysmorphism
#11, f	7	severe	p.Tyr272Cys and p.Tyr567Cys	CS	+	−	floppy infant, generalized hypotonia	ND	+	3 months^b	hepatosplenomegaly, myelodysplastic and preleukemic syndrome, facial dysmorphism
#12, f	8	severe	p.Cys647Leufs^∗26 and p.Ile682Asn	CM	+	ataxia, tremor	stiff baby	−	+	5 months^b	microcephaly, IUGR, epilepsy
#13, m	9	severe	p.Arg250^∗, p.Arg417^∗, and p.Glu501Lys	CS	ND	jittery	stiff baby	ND	+	24 days^b	epilepsy
#14, m	9	severe	p.Arg250^∗, p.Arg417^∗, and p.Glu501Lys	CS	ND	ND	stiff baby	ND	ND	54 days^b	IUGR, mild dilated cardiomyopathy

All individuals are of European descent. Abbreviations are as follows: CM, chronic moderate; CS, chronic severe; ID, intellectual disability; IS, intermittent severe; IUGR, intrauterine growth retardation; ND, no data; 3-MGA-uria, 3-methylglutaconic aciduria.

Isolated cerebellar atrophy.

Age deceased.