Differential diagnosis A somewhat similar X-linked syndrome of<unk> , called oculofaciocardiodental syndrome (OFCD) is associated with mutations in BCOR. OFCD syndrome is inherited in an X-linked dominant pattern with male lethality.
Lenz microphthalmia syndrome
Ring chromosome 14 syndrome
Ring chromosome 20 syndrome
Marshall–Smith syndrome
2q37 deletion syndrome
7q11.23 duplication syndrome
13q deletion syndrome
Chromosome 5q deletion syndrome