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14q24.1q24.3 microdeletion syndrome

MedGen UID:
1668571
•Concept ID:
C4750911
•
Disease or Syndrome
Synonyms: Del(14)(q24.1q24.3); Monosomy 14q24.1q24.3; monosomy 14q24.1q24.3
SNOMED CT: 14q24.1q24.3 microdeletion syndrome (773494008); Monosomy 14q24.1q24.3 (773494008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018429
Orphanet: ORPHA401935

Definition

A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV14q24.1q24.3 microdeletion syndrome

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