Table 2.

Genotypes and clinical phenotypes of the NBS group.

No.	Diagnosis	Mode of diagnosis	Allele 1 (nucleotide change)	Allele 2 (nucleotide change)	Symptomatic at (suspected) diagnosis (yes/no)	Cardiomyopathy (yes/no)	Myopathy (yes/no)	Hepatopathy (yes/no)	Neuropathy (yes/no)	Retinopathy (yes/no)
1–19	LCHAD	NBS	1–17: HADHA: c.1528G>C	1‐17: HADHA: c.1528G>C	No	Yes: N = 7	Yes: N = 17	Yes: N = 4	Yes: N = 6	Yes: N = 5
			18–19: missing a	18–19: missing		No: N = 12	No: N = 2	No: N = 15	No: N = 13	No: N = 14
20–27	LCHAD	NBS	HADHA: c.1528G>C	HADHA: c.1528G>C	Yes	Yes: N = 1	Yes: N = 6	Yes: N = 3	Yes: N = 2	Yes: N = 1
										No: N = 6
						No: N = 7	No: N = 2	No: N = 5	No: N = 6	N.A.: N = 1
28–29	MTP	NBS	HADHA: c.1528G>C	HADHA: c.1893delA	No	No: N = 2	Yes: N = 2	Yes: N = 1	No	No: N = 1
								No: N = 1	N = 2	missing: N = 1
30	MTP	NBS	HADHA: c.1528G>C	HADHA: 1540delA	No	No	Yes	No	No	No
31	MTP	NBS	HADHA: c.1528G>C	HADHA: c.703C>T	No	No	Yes	Yes	No	No
32	MTP	NBS	HADHA: c.1528G>C	HADHA: c.IVS5‐2A>T	No	No	Yes	No	Yes	missing
33	MTP	NBS	HADHA: c.602T>C	HADHA: c.602T>C	No	No	No	No	No	No
34	MTP	NBS	HADHA: c.955G>A	HADHA: c.955G>A	No	No	Yes	No	Yes	No
35	MTP	NBS	HADHA: c.1480C>G	HADHA: c.1480C>G	No	Yes	Yes	No	No	No
36	MTP	NBS	HADHB: c.230A>G	HADHB: c.230A>G	No	Yes	Yes	No	No	missing
37	MTP	NBS	HADHB: c.580C>T	HADHB: c.1115A>T	No	No	Yes	No	No	No
38	MTP	NBS	HADHB: c.686G>A	HADHB: c.712C>T	No	No	Yes	Yes	Yes	No
39	MTP	NBS	HADHB: c.739C>T	HADHB: c.739C>T	No	No	No	No	No	No
40	MTP	NBS	HADHB: c.1198G>T	HADHB: c.442+663A>G	No	Yes	No	No	No	No
41	MTP	NBS	HADHB: c.1389+5G>A	HADHB: c.1389+5G>A	No	No	No	Yes	No	No
42	MTP	NBS	missing	missing	No	Yes	No	No	No	No
43	MTP	NBS	HADHA: c.1528G>C	HADHA: c.1195C>T	Yes	Yes	Yes	No	Yes	No
44	MTP	NBS	HADHA: c.1528G>C	HADHA: c.1493A>G	Yes	No	Yes	Yes	Yes	Yes
45	MTP	NBS	HADHA: c.1528G>C	HADHA: c.2107G>A	Yes	No	Yes	Yes	No	Yes
46	MTP	NBS	HADHA: c.1528G>C	HADHA: c.180_180+5 delinsA	Yes	No	Yes	Yes	No	No
47	MTP	NBS	HADHA: c.1528G>C	HADHA: c.274_278del	Yes	Yes	Yes	Yes	Yes	No
48	MTP	NBS	HADHA: c.1528G>C	HADHA: c.IVS14+1G>T	Yes	No	Yes	No	No	Yes
49	MTP	NBS	HADHB: c.88_91delTCCC	HADHB: c.88_91delTCCC	Yes	No	Yes	Yes	No	No
50	MTP	NBS	missing	missing	Yes	No	Yes	No	No	No
51 b	MTP	NBS	HADHA: c.255‐2A>G	HADHA: c.255‐2A>G	missing	Yes	missing	missing	missing	missing
52 b	MTP	NBS	HADHB: c.182G>A	HADHB: IVS4‐3C>G	missing	Yes	missing	missing	missing	missing
53 b	MTP	NBS	HADHB: c.583C>T	HADHB: c.1280G>A	missing	Yes	missing	missing	missing	missing
54 b	MTP	NBS	missing	missing	missing	missing	missing	missing	missing	missing

Genotypes are displayed according to the transcripts NM_000182.5 for the HADHA‐ ³ and NM_000183.3 for the HADHB‐gene. ²⁷ If necessary, they were converted using the position converter of mutalyzer. ²⁸

^a Data not available.

^b Participant deceased.