Table 2.

Syndromes in which hyperinsulinaemic hypoglycaemia (HH) has been reported as a feature. The 18 genes in which mutations have been reported to cause syndromic HH plus the three genomic regions known to be affected by copy number variants (CNVs) or uniparental isodisomy (UPD) are provided

Syndrome	OMIM Gene(s)	Inheritance	References	HH clinical features[Link]
Adenosine kinase deficiency	ADK	Recessive	Staufner et al23	Neonatal onset. Recurrent. Diazoxide responsive
Congenital disorders of glycosylation (type 1d)	ALG3	Recessive	Sun et al7	Neonatal onset
Timothy	CACNA1C	Dominant	Splawski et al24	Childhood onset. Recurrent
CACNA1D	CACNA1D	Dominant	Flanagan et al25	Onset from birth. Persistent and transient reported. Diazoxide responsive
Beckwith‐Wiedemann	CDKN1C, UPD or CNVs at 11p15	Dominant	Munns and Batch4	Onset in neonatal period. Transient. Diazoxide responsive
Perlman	DIS3L2	Recessive	Henneveld et al26	Onset from birth
Tyrosinaemia type I	FAH	Recessive	Baumann et al27	Neonatal onset. Transient. Diazoxide responsive
Simpson‐Golabi‐Behmel	GPC3	X‐linked recessive	Terespolsky et al28	Neonatal onset
Costello	HRAS	Dominant	Sheffield et al29	Onset from birth. Transient
Insulin resistance syndrome (leprechaunism)	INSR	Dominant	Hojlund et al30	Onset 3 to 30 years of age. Postprandial HH. Octreotide responsive
Kabuki	KMT2D, KDM6A	Dominant	Gole et al6	Onset from birth. Persistent. Diazoxide responsive
Congenital disorder of glycosylation (type 1b)	MPI	Recessive	Deeb and Amoodi31	Neonatal onset. Persistent. Diazoxide responsive
Sotos	NSD1	Dominant	Baujat et al5	Neonatal onset. Persistent. Diazoxide responsive
Congenital disorder of glycosylation (type 1t)	PGM1	Recessive	Tegtmeyer et al8	Childhood onset. Recurrent
Central hypoventilation syndrome	PHOX2B	Dominant	Hennewig et al32	Neonatal onset. Recurrent. Diazoxide responsive
Congenital disorder of glycosylation (type 1a)	PMM2	Recessive	Bohles et al33	Neonatal onset. Persistent. Diazoxide responsive
Polycystic Kidney Disease with HH	PMM2	Recessive	Cabezas et al9	Neonatal/childhood onset. Persistent. Diazoxide responsive
TRMT10A	TRMT10A	Recessive	Gillis et al34	Childhood onset. Persistent. Diazoxide responsive
Patau syndrome	Trisomy 13	De novo	Smith and Giacoia35	Onset from birth. Transient
Turner	X Chromosome deletions	De novo	Alkhayyat et al10	Neonatal onset. Persistent. Diazoxide responsive

Features of HH as reported in cases from the published literature.