Table 2. Additional genes associated with isolated and complex microphthalmia, often with syndromic features, tested by next-generation sequencing.

Gene	Cytogenetic location	OMIM# of gene	Associated disease acronym	OMIM# of the disease (where applicable)
BCOR	Xp11.4	300485	Microphthalmia, syndromic 2	300166
BMP4	14q22.2	112262	Microphthalmia, syndromic 6	607932
CHD7	8q12.2	605806	CHARGE syndrome	214800
COL4A1	13q34	120130	Brain small vessel disease with or without ocular anomalies	607595
FREM1	9p22.3	608944	Manitoba oculotrichoanal syndrome	248450
HCCS	Xp22.2	300056	Linear skin defects with multiple congenital anomalies 1	309801
HMGB3	Xq28	300193	Microphthalmia, syndromic 13	300915
MAB21L2	4q31.3	604357	Microphthalmia, syndromic 14	615877
NAA10	Xq28	300013	Microphthalmia, syndromic 1	309800
OTX2	14q22.3	600037	Microphthalmia, syndromic 5	610125
PAX6	11p13	607108	Ocular malformations within the MAC spectrum	—
PXDN	2p25.3	605158	Cornea opacification and other ocular anomalies	269400
RARB	3p24.2	180220	Microphthalmia, syndromic 12	615524
SMOC1	14q24.2	608488	Microphthalmia with limb anomalies	206920
SOX2	3q26.33	184429	Microphthalmia, syndromic 3	206900
TMX3	18q22.1	616102	Microphthalmia with coloboma	—
VAX1	10q25.3	604295	Microphthalmia, syndromic 11	614402
YAP1	11q22.1	606608	Ocular coloboma	120433