neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

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 chromoso

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.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Motor delay
• Microcephaly
• Prominent nose
• Generalized hypotonia
• Broad hallux
• Intellectual disability
• Short stature
• Clinodactyly of the 5th finger

Also known as: NEDDFL