Microcephalic primordial dwarfism, Toriello type

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Microcephalic primordial dwarfism, Toriello type

A rare disorder characterised 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Microcephalic primordial dwarfism, Toriello type?

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