Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report

Table 1 Deleted OMIM genes in the 16p13.2p12.3 region

Gene	Disorder	Inheritance
ABCC1	Deafness, autosomal dominant 77 (?)	AD
ABCC6	Arterial calcification, generalized, of infancy, 2	AR
ABCC6	Pseudoxanthoma elasticum	AR
ABCC6	Pseudoxanthoma elasticum, forme fruste	AD
CIITA	Rheumatoid arthritis, susceptibility to
CIITA	Bare lymphocyte syndrome, type II, complementation group A	AR
EMP2	Nephrotic syndrome, type 10	AR
ERCC4	XFE progeroid syndrome	AR
ERCC4	Fanconi anemia, complementation group Q	AR
ERCC4	Xeroderma pigmentosum, type F/Cockayne syndrome	AR
GRIN2A	Epilepsy, focal, with speech disorder and with or without mental retardation	AD, ADIP
LITAF	Charcot-Marie-Tooth disease, type 1C	AD, H
MYH11	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	AR
MYH11	Aortic aneurysm, familial thoracic 4	AD
MYH11	Visceral myopathy 2	AD
NDE1	Microhydranencephaly (?)	AR
NDE1	Lissencephaly 4 (with microcephaly)	AR
PARN	Dyskeratosis congenita, autosomal recessive 6	AR
PARN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	AD, ADIP
TAT	Tyrosinemia, type II	AR
YY1AP1	Grange syndrome	AR

Sign “?” indicates that more solid evidence is needed. AD: Autosomal dominant; ADIP: Autosomal dominant with incomplete penetrance; AR: Autosomal recessive.