. 2019 Oct 24;9(2):137–141. doi: 10.1055/s-0039-1700519

Table 1. Comparison of the phenotype exhibited by the presented case and the phenotypes from reported cases with the same mutations for mucolipidosis II α/beta (MLII) ⁹ and Leigh syndrome (LS) ¹⁰ .

	Mutation	Pathology	Phenotype
	Mutation	Pathology	Facial dysmorphia	Neurological complications	Other
Our patient	GNPTAB c.732_733delAA	Mucolipidosis II alpha/beta	Large anterior folded ears, long philtrum, small mouth with prominent alveolar ridge, epicanthal folds	Mild generalized hypertonia	Failure to thrive, short limbs, wrist contractures, bowing of tibia and fibula
Our patient	NDUFA12 c.178C > T	Leigh syndrome		Mild generalized hypertonia
Reported case ⁹	GNPTAB	Mucolipidosis II alpha/beta	Metopic prominence, coarse facial features, depressed nasal bridge, shallow orbits, prominent mouth with thickened alveolar ridges, gingival hypertrophy	Range of neuromotor deficiencies (unable to sit by themselves, some able to walk without assistance), hypotonia, limited verbal skills, cognitive impairment	Premature statural growth cessation, short femurs, bowed limbs, mitral and aortic valve thickening
Reported case ¹⁰	NDUFA12 homozygous c.178C> T	Leigh syndrome	None reported	Loss of motor function beginning at 2 years and wheel chair bound at 10 years, dystonia, severe muscular dystrophy, hypotonia	Growth retardation: height and weight in 3rd percentile, hypertrichosis, scoliosis

Table 1. Comparison of the phenotype exhibited by the presented case and the phenotypes from reported cases with the same mutations for mucolipidosis II α/beta (MLII) 9 and Leigh syndrome (LS) 10 .