Term Name: Pilarowski-Bjornsson syndrome
Synonyms:
Definition: An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q.
Ontology: Human Disease [DOID:0070757]   ( DOID:0070757 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder