8p11.2 deletion syndrome
Name: |
8p11.2 deletion syndrome
|
Description: |
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
|
ORPHAcode: |
251066
|
Synonyms: |
Del(8)(p11.2)
Monosomy 8p11.2
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|