Visualize Submit Comment
Metadata
ID DOID:0070007
Name Seckel syndrome 1
Definition A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.
https://www.ncbi.nlm.nih.gov/pubmed/12640452
Xrefs

MESH:C537533

OMIM:210600

Synonyms

microcephalic primordial dwarfism I [EXACT]

SCKL1 [EXACT]

Parent Relationships

is_a Seckel syndrome

Add an item to the term tracker