Infantile osteopetrosis with neuroaxonal dysplasia

Disease Export to PDF

Name:	Infantile osteopetrosis with neuroaxonal dysplasia
Description:	This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
ORPHAcode:	85179
XREF(s):	Orphanet ICD-10 OMIM OMIM
Analyte(s):	OSTM1
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Analytes

• OSTM1