Term Name: Seckel syndrome 1
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.
Ontology: Human Disease [DOID:0070007]   ( DOID:0070007 )

Relationships
is a type of: Seckel syndrome