Visualize Submit Comment
Metadata
ID DOID:0070008
PURL http://purl.obolibrary.org/obo/DOID_0070008 Copy
Name Seckel syndrome 10
Definition A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.
https://www.ncbi.nlm.nih.gov/pubmed/25105364
Xrefs

MIM:617253

Synonyms

SCKL10 [EXACT]

Parent Relationships

is_a Seckel syndrome

Add an item to the term tracker