syndromic disease microcephalic primordial dwarfism, Toriello type https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type https://www.malacards.org/card/microcephalic_primordial_dwarfism_toriello_type_2 MEDGEN:381556 MESH:C537321 icd11.foundation:279033035 MONDO:0009616 microcephalic primordial dwarfism and cataracts Orphanet:2643 microcephalic primordial dwarfism Toriello type OMIM:251190 UMLS:C1855089 GARD:0003602 SCTID:715482004 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. primordial dwarfism and slender bone disorder