Table 2.

Clinical data for STAC3 disorder cases found in the literature

Reference	Descent	Cases	Symptoms	MH episodes	STAC3 variant
(94)	Qatari	2	Hypotonia, myopathic facies, generalized weakness, ptosis, cleft palate, growth delay, kyphoscoliosis, asymmetric hip position, long face, swallowing difficulty	2/2	W284S
	Puerto Rican	2	Facial & generalized weakness, cleft palate, hypotonia, respiratory impairment, hearing loss	1/2	W284S, Leu255IlefsX58
(95)	Turkish	1	Congenital muscle weakness, scoliosis, respiratory impairment, ptosis, short stature, delayed motor development, oral hypotonia	No	K288∗, c.432+4A>T
(97)	N/A	1	Hypotonia, respiratory impairment, cleft palate, club feet, adducted thumbed, hip dysplasia, muscle weakness, scoliosis	Yes	W284S
(96)	African, Middle Eastern, Comorian, South American	17	(Variable) hypotonia, talipes, contractures, cleft palate, respiratory impairment, limb weakness, ptosis, facial weakness, muscle atrophy, scoliosis, spinal rigidity, hearing loss	9/17	W284S
	Afro-Caribbean	1	Multiple contractures, hypotonia, respiratory impairment, cleft palate, elevated hemi-diaphragm, facial weakness, scoliosis, ptosis, myopathic face	Yes	W284S, Δ333IVVQ336
(98)	Lumbee	14	(Variable) delayed motor development, myopathic face, ptosis, downturned mouth, cleft palate, micrognathia, congenital joint contractures, scoliosis 36% mortality rate	4/14	N/A
(42)	Lumbee	5	Not indicated in publication	N/A	W284S

Abbreviation: MH, malignant hyperthermia.

If only one allele is listed, the variant is homozygous. If two are shown, each corresponds to one gene copy.