2p13.2 microdeletion syndrome

MedGen UID:: 1662313
•Concept ID:: C4749460
•: Disease or Syndrome

Synonym:	Del(2)(p13.2)
SNOMED CT:	2p13.2 microdeletion syndrome (770756008)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0018207
Orphanet:	ORPHA363680

Definition

A rare partial autosomal monosomy characterised by global development delay, intellectual disability, behavioural abnormalities (hyperactivity, attention deficit and autistic behaviours), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV2p13.2 microdeletion syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- 2p13.2 microdeletion syndrome

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2p13.2 microdeletion syndrome

Definition

Term Hierarchy

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