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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
General
chromosome deletion syndrome
Database Correlations
OMIM 610253
References
OMIM :accession 610253