chromosome 9q subtelomeric deletion syndrome (9q- syndrome)

Genetics

• assocoated with defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome

Clinical manifestations

• severe mental retardation
• hypotonia
• brachycephaly
• microcephaly
• epilepsy
• flat face with hypertelorism
• synophrys
• anteverted nares
• cupid bow or tented upper lip
• everted lower lip
• prognathism
• macroglossia
• conotruncal heart defects
• behavioral problems

More general terms

• chromosome deletion syndrome

Database

• OMIM: https://mirror.omim.org/entry/610253