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20q11.2 microdeletion syndrome

MedGen UID:
1810637
Concept ID:
C5680063
Disease or Syndrome
Synonyms: Del(20)(q11.2); monosomy 20q11; Monosomy 20q11
SNOMED CT: 20q11.2 microdeletion syndrome (1229891004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018633
Orphanet: ORPHA444051

Definition

A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV20q11.2 microdeletion syndrome

Recent clinical studies

Diagnosis

Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G
Am J Med Genet A 2015 Mar;167A(3):504-11. Epub 2015 Jan 8 doi: 10.1002/ajmg.a.36882. PMID: 25572454

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