Seckel syndrome 1

Term ID

DOID:0070007

Synonyms

• microcephalic primordial dwarfism I
• SCKL1

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

References

• MESH:C537533
• OMIM:210600

Ontology

Human Disease   ( DOID:0070007 )