Microcephalic primordial dwarfism, Toriello type

MONDO:0009616

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, microcephalic primordial dwarfism Toriello type, microcephalic primordial dwarfism and cataracts

0 clinical trials for this condition and its sub-types, 0 tagged with Microcephalic primordial dwarfism, Toriello type itself.

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↑ Syndromic disease (7133) ↑ Primordial dwarfism and slender bone disorder (9)

Including sub-types (0) Tagged with Microcephalic primordial dwarfism, Toriello type (0)

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