Associated dysmorphic features were noted, including microcephaly, a high sloping forehead, overfolded helices, long and tapered fingers and toes, contractures, and hypoplastic
[genome.jp]
Clinical Synopsis: INHERITANCE: Autosomal recessive HEAD AND NECK: [Head]; Microcephaly; [Face]; High, sloping forehead; Prominent forehead; [Eyes]; Cararacts; [Ears]; Overfolded
[genome.jp]
[…] helices; Low-set ears; Posteriorly-rotated ears; [Nose]; Bulbous nose; [Mouth]; High-arched palate; Narrow palate CARDIOVASCULAR: [Heart]; Cardiomegaly; Dilated cardiomyopathy
[genome.jp]