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2q23.1 microdeletion syndrome

MedGen UID:
930201
Concept ID:
C4304532
Disease or Syndrome
Synonyms: chromosome 2q23.1 microdeletion syndrome; Del(2)(q23.1); Monosomy 2q23.1; monosomy 2q23.1; Pseudo-Angelman syndrome; pseudo-Angelman syndrome
SNOMED CT: 2q23.1 microdeletion syndrome (719657001); Monosomy 2q23.1 (719657001); Pseudo-Angelman syndrome (719657001)
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:0016459
Orphanet: ORPHA228402

Definition

The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV2q23.1 microdeletion syndrome

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