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mental retardation syndromic X-linked with hypotonic facies syndrome type 1; Carpenter-Waziri syndrome; Juberg-Marsidi syndrome, Smith-Fineman-myers syndrome type 1
Genetics:
- associated with defects in ATRX
- highly skewed X-inactivation pattern in carrier women
Clinical manifestations:
- severe mental retardation
- dysmorphic facies
- variable features include hypogonadism, deafness, renal anomalies, & mild skeletal defects
General
X-linked mental retardation syndromic
Database Correlations
OMIM 309580
References
OMIM :accession 309580