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Metadata
ID	DOID:0070469
Name	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Definition	An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. https://pubmed.ncbi.nlm.nih.gov/31924697/, https://pubmed.ncbi.nlm.nih.gov/36255738/
Xrefs	MIM:619480
SKOS	exactMatch MIM:619480
Synonyms	NEDDFAC [EXACT]
Parent Relationships	is_a autosomal dominant intellectual developmental disorder