Term Name: | Fliedner-Zweier syndrome |
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Synonyms: | SCAF4-related syndromic intellectual disability |
Definition: | A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22. |
Ontology: | Human Disease [DOID:0070653] ( DOID:0070653 ) |