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Up to: Syndromic disease · Primordial dwarfism and slender bone disorder
Microcephalic primordial dwarfism, Toriello type
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.
This condition has no sub-types.