DISEASES

Disease-gene associations mined from literature

Human genes for Seckel syndrome 1

Seckel syndrome 1 [DOID:0070007]

A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.

Synonyms:  Seckel syndrome 1,  DOID:0070007,  SCKL1,  microcephalic primordial dwarfism I,  microcephalic primordial dwarfism Is