Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |