Table 2.

Summary of Clinical Characteristics of Individuals with Variants in the ATPase Module of MORC2

	This Paper		All Individuals
Clinical Characteristics	Total	%	Total	%
Short staturea	18/20	90	18/20	90
Microcephalya	15/20	75	16/21	76
Developmental Delay
Motor delay	19/20	95	22/23	96
Intellectual disability	18/20	90	18/22	82
Facial dysmorphism	16/20	80	17/21	81
Hearing Loss	11/19	58	12/20	60
Pigmentary retinopathy	5/6	83	5/6	83
Neuromuscular
Hypotonia	11/16	69	14/19	74
Hyporeflexia/areflexia	9/18	50	13/22	59
Hyperreflexia	6/18	33	6/22	27
Weakness	8/15	53	12/19	63
High arches	7/16	44	7/16	44
Gait abnormalities	15/16	94	18/19	95
EMG/NCS abnormalities	6/10	60	11/15	73
Brain MRI
Any abnormality	12/18	66	12/21	57
Leigh-like lesionsb	5/18	28	5/21	24
White matter abnormalities	9/18	50	9/21	43

Abbreviations are as follows: EMG, electromyogram; NCS, nerve conduction study; MRI, magnetic resonance imaging

^a2 standard deviations (SDs) below the mean for age by CDC standards.

^bBased on ClinGen panel Leigh syndrome curation guidelines.