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 | |
Synonyms |
microcephalic primordial dwarfism I [EXACT] SCKL1 [EXACT] |
Parent Relationships |
is_a Seckel syndrome |