New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria.
A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.
Zollino
M
M
Istituto di Genetica Umana, Facoltà di Medicina A. Gemelli, Università Cattolica, Rome, Italy.
Mastroiacovo
P
P
Zampino
G
G
Mariotti
P
P
Neri
G
G
D000293:Adolescent; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome