|OBO ID: DOID:0060270|
|Term Name:||pontocerebellar hypoplasia type 2D||Search Ontology:|
|Definition:||A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. https://www.omim.org/entry/613811|
|Ontology:||Human Disease (DOID:0060270)|
|is a type of:||
OTHER pontocerebellar hypoplasia type 2D PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.