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Distal 17p13.3 microdeletion syndrome

MedGen UID:
1643975
Concept ID:
C4707092
Disease or Syndrome
Synonyms: distal 17p13.3 microdeletion syndrome; Distal del(17)(p13.3 ); distal del(17)(p13.3); Distal monosomy 17p13.3; distal monosomy 17p13.3
SNOMED CT: Distal 17p13.3 microdeletion syndrome (764696007); Distal monosomy 17p13.3 (764696007)
 
Monarch Initiative: MONDO:0016839
Orphanet: ORPHA261257

Definition

A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia but not lissencephaly. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Distal 17p13.3 microdeletion syndrome

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