| Metadata | |
|---|---|
| ID | DOID:0070653 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070653 Copy |
| Name | Fliedner-Zweier syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/37394306/, https://pubmed.ncbi.nlm.nih.gov/32730804/, https://pubmed.ncbi.nlm.nih.gov/36333968/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620511 broadMatch ORDO:528084 |
| Subsets |
DO_rare_slim |
| Synonyms |
SCAF4-related syndromic intellectual disability [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |