<unk>  is inherited as an X-linked recessive genetic trait and is fully expressed in males only. Females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, or malformations of the fingers or toes. Molecular genetic testing of BCOR (MCOPS2 locus), the only gene known to be associated with<unk> , is available on a clinical basis. One additional locus on the X chromosome (MCOPS1) is known to be associated with LMS.
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