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mental retardation syndromic X-linked Turner type; mental retardation & macrocephaly syndrome
Genetics:
- X-linked
- associated with defects in HUWE1
Clinical manifestations:
- variable
- associated phenotypes include macrocephaly & variable contractures
General
X-linked mental retardation syndromic
Database Correlations
OMIM 300706
References
OMIM :accession 300706