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

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/309580