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Metadata
ID DOID:0061041
Name autosomal dominant intellectual developmental disorder 68
Definition An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/33150406/
Xrefs

MIM:619934

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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