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Metadata
ID	DOID:0070514
Name	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Definition	An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. https://pubmed.ncbi.nlm.nih.gov/28942966/, https://pubmed.ncbi.nlm.nih.gov/33522091/
Xrefs	MIM:617755
SKOS	exactMatch MIM:617755
Synonyms	NEDDFL [EXACT]
Parent Relationships	is_a autosomal dominant intellectual developmental disorder