Metadata | |
---|---|
ID | DOID:0061129 |
Name | intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16. https://pubmed.ncbi.nlm.nih.gov/30057029/ |
Xrefs | |
Synonyms |
FBXO11-related NDD [EXACT] FBXO11-related neurodevelopmental disorder [EXACT] IDDFBA [EXACT] |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
disease has basis in some symptom |