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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

OMIM:210600

Synonyms

microcephalic primordial dwarfism I [EXACT]

SCKL1 [EXACT]

Parent Relationships

is_a Seckel syndrome

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