Inheritance: autosomal recessive
Key diagnostic features - all 4 should be present:
(1) type II lissencephaly (widespread agyria with scattered areas of macrogyria and/or polymicrogyria)
(2) cerebellar malformation
(3) retinal malformation
(4) congenital muscular dystrophy
Additional findings may include:
(1) ventricular dilatation
(2) anterior chamber malformations (corneal clouding, narrow iridocorneal angle, cataracts, total absence)
(3) cleft lip and/or palate
(4) congenital macro or microcephaly
(5) posterior cephalocele
(6) microopthalmia
(7) ocular coloboma
(8) congenital contractures
(9) genital anomalies in males
(10) Dandy-Walker malformation
