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Distal 17p13.1 microdeletion syndrome

MedGen UID:
1657963
Concept ID:
C4749349
Disease or Syndrome
Synonyms: distal 17p13.1 microdeletion syndrome; Distal del(17)(p13.1); distal del(17)(p13.1)
SNOMED CT: Distal 17p13.1 microdeletion syndrome (770629000)
 
Monarch Initiative: MONDO:0017867
Orphanet: ORPHA319171

Definition

A rare chromosomal anomaly syndrome with characteristics of mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal 17p13.1 microdeletion syndrome

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