U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hao-Fountain syndrome due to 16p13.2 microdeletion

MedGen UID:
1804697
Concept ID:
C5680086
Disease or Syndrome
Synonyms: 16p13.2 microdeletion syndrome; Chromosome 16p13.2 deletion syndrome
SNOMED CT: 16p13.2 microdeletion syndrome (1228890005); Monosomy 16p13.2 (1228890005)
 
Monarch Initiative: MONDO:0100528
OMIM®: 616863

Definition

A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...