Term Name: | Seckel syndrome 1 |
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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 ) |