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Human Disease

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Term ID
DOID:0070514
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. (2)
References
Ontology
Human Disease   ( DOID:0070514 )
Relationships
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Genes Involved
Zebrafish Models