Metadata | |
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ID | DOID:0061126 |
Name | Brunet-Wagner neurodevelopmental syndrome |
Definition | An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. https://pubmed.ncbi.nlm.nih.gov/33980986/ |
Xrefs | |
Synonyms |
BRUWAG [EXACT] |
Parent Relationships |
is_a syndrome is_a autosomal recessive intellectual developmental disorder |
Subclass Logical Relationships |
disease has basis in some symptom |