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Non-distal monosomy 10q

MedGen UID:
1657787
Concept ID:
C4749375
Disease or Syndrome
Synonyms: Non-distal deletion 10q; non-distal deletion 10q; non-distal monosomy 10q; non-distal monosomy type 10q; Non-telomeric monosomy 10q; non-telomeric monosomy 10q
SNOMED CT: Non-distal deletion 10q (770665005); Non-distal monosomy 10q (770665005); Non-telomeric monosomy 10q (770665005)
 
Monarch Initiative: MONDO:0015546
Orphanet: ORPHA1581

Definition

A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10. The disease has a highly variable phenotype with principle characteristics of developmental delay (usually of language and speech), variable cognitive impairment, autism spectrum disorder and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNon-distal monosomy 10q

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