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DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

MedGen UID:
1673021
Concept ID:
C5191008
Disease or Syndrome
Synonyms: 21q22.13-q22.2 microdeletion syndrome; 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion; monosomy 21q22.13-q22.2; Monosomy 21q22.13q22.2; monosomy 21q22.13q22.2
SNOMED CT: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (783619003); Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (783619003); 21q22.13q22.2 microdeletion syndrome (783619003); Monosomy 21q22.13q22.2 (783619003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017056
Orphanet: ORPHA268261

Definition

A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

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