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microcephalic primordial dwarfism, Toriello type

Disease Summary
Associated Targets ()

Mondo Description Microcephalic primordial dwarfism, Toriello type is 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.
Mondo Term and Equivalent IDs
MONDO:0009616:  microcephalic primordial dwarfism, Toriello type
GARD:0003602: 
MESH:C537321: 
Orphanet:2643: 
SCTID:715482004: 
UMLS:C1855089: