12q15q21.1 microdeletion syndrome

Disease Export to PDF
Name:
12q15q21.1 microdeletion syndrome
Description:
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.
ORPHAcode:
289513
Synonyms:
Del(12)(q15)(q21.1)
Deletion 12q15q21.1
Monosomy 12q15q21.1
XREF(s):
Analyte(s):
Created:
04 Feb 2020 - 15:13
Changed:
01 May 2022 - 06:55