developmental delay, dysmorphic facies, and brain anomalies

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumfer

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13.

Signs and symptoms

• Microcephaly
• Hypoplasia of the corpus callosum
• Global developmental delay
• Febrile seizure (within the age range of 3 months to 6 years)
• Upslanted palpebral fissure
• Delayed CNS myelination
• Deep philtrum
• Hypotonia
• Vertical nystagmus
• Microtia

Also known as: DEVDFB