Term Name:	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Synonyms:	NEDDFL
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.
Ontology:	Human Disease [DOID:0070514]   ( DOID:0070514 )