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  • A mental retardation syndrome with short stature, high pitched voice, high forehead, and receding hairline.
  • Mental retardation syndrome with microcephaly, brachycephaly, spastic diplegia, small testes, and possibly intra-uterine growth retardation.
  • Mental retardation with growth deficiency, craniofacial deformities, heart defects, and dry and brittle hair. This and X-linked mental retardation 1 are considered similar but separate entities.
  • Psychomotor retardation, short stature, microcephaly, eye defects, and small testes are the principal manifestations.
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