The association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. It has been described in five patients (three boys and two girls). The clinical manifestations are evident from birth. The palate anomal
Syndrome with characteristics of caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
X-linked mental retardation, Turner type has characteristics of moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was repo
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