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.
MONDO:0002254
syndromic disease
is_a
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
microcephalic primordial dwarfism Toriello type
related
microcephalic primordial dwarfism and cataracts
related
microcephalic primordial dwarfism, Toriello type
exact