Microcephalic primordial dwarfism, Toriello type
Microcephalic primordial dwarfism, Toriello type
Definition
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.
Also known as microcephalic primordial dwarfism, Toriello type — per MONDO