label: microcephalic primordial dwarfism, Toriello type
label_lc: microcephalic primordial dwarfism, toriello type
description: "Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive."