Table 1.

Clinical and radiographic findings of the four Indian families with homozygous TMEM53 pathogenic variants.

Individual	V-1	V-2	III-18	II-1	III-4
Family	A	A	B	C	D
Pathogenic variant	c.222_223ins4	c.222_223ins4	c.62-5_c.62-3del3	c.62-5_c.62-3del3	c.62-5_c.62-3del3
Demographics
Sex	Male	Female	Female	Male	Male
Present age	19 years	12 years	8 years	15 years	17 years
Consanguinity	+	+	Probably +	−	+
Clinical finding
Height [cm] (SD)	150 (−3.6)	138 (−2.7)	107 (−3.6)	148 (−3)	138 (−5)
Macrocephaly	−	−	+	+	+
Prominent forehead	+	+	+	N/A	N/A
Hypertelorism	+	+	+	−	+
Dolichocephaly	+	+	+	−	+
Impaired vision	Started at 8 years	Started at 11 years	Started at 8 years	Started at 11 years	Started at 17 years
Radiographic finding
Thin cortex	+	+	+ Mild	+ Mild	−
Calvaria thickening	+	+	+ Mild	+	+
Skull base sclerosis	+	+ Mild	−	+	+
Broad rib	+	+	+ Mild	+	+ Mild
Platyspondyly	+ Mild	+ Mild	+ Mild	+ Mild	+ Mild
Wide pubis/ischia	+	+	+ Mild	+	+
Broad femoral neck	+	+	+	+	+
Meta-diaphyseal undermodeling of long bones	+	+	+ Mild	+	+ Very mild
Broadening diaphysis of short bones	+	+	+	+	+ Very mild

N/A not available.