Table 1

Clinical features of patients 1 and 2, compared with MEB and WWS patients with confirmed mutations in POGnT1 and POMT1, respectively

Feature *MEBWWSPatient 1†Patient 2‡
MEB, muscle-eye-brain disease; WWS, Walker–Warburg syndrome; FTP, fronto, temporal, and parietal.
*The severity of the symptoms grade from – (absent) to +++ (very pronounced); †MEB phenotype, FKRP mutations; ‡WWS phenotype, FKRP mutations.
Cortical abnormalityPachygyria/polymicrogyriaAgyria thin mantleFTP pachygyriaAgyria
White matter abnormality++++++
Fused hemispheres+
Absent septum++
Corpus callosumNormal/thinAbsentNormalAbsent
Cerebellar hypoplasia++++++++++
Cerebellar vermisHypoplasticAbsentHypoplasticAbsent
Cerebellar cysts++++
Muscular dystrophy++++++++++++
Retinal defects++++++
Anterior chamber abnormalities+++++++++
Life expectancy10–30 years<3 years7 years3 years