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Microcephalic primordial dwarfism, Toriello type

MedGen UID:
381556
•Concept ID:
C1855089
•
Disease or Syndrome
Synonym: Microcephalic primordial dwarfism and cataracts
SNOMED CT: Microcephalic primordial dwarfism of Toriello type (715482004); Microcephalic primordial dwarfism Toriello type (715482004)
 
Monarch Initiative: MONDO:0009616
OMIM®: 251190
Orphanet: ORPHA2643

Definition

Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephalic primordial dwarfism, Toriello type
Follow this link to review classifications for Microcephalic primordial dwarfism, Toriello type in Orphanet.

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