Search
mental retardation, nonsyndromic autosomal dominant 5 (MRD5)
Genetics:
- autosomal dominant form associated with defects in SYNGAP1
Clinical manifestations:
- non-specific (see mental retardation)
- sub-average general intellectual functioning associated with impairments in adaptative behavior
- manifested during the developmental period
- specifc to MRD5
- global developmental delay
- delayed motor development
- hypotonia
- moderate-to-severe mental retardation
- severe language impairment
- autism can be present in some patients
Database Correlations
OMIM 612621
References
- OMIM :accession 612621