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

• OMIM:617755

Ontology

Human Disease   ( DOID:0070514 )