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Metadata
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

MIM:619690

Synonyms

BRUWAG [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive intellectual developmental disorder

Subclass Logical Relationships

disease has basis in some symptom

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