DISEASE: Developmental delay, dysmorphic facies, and brain anomalies
Entry
H02993 Disease
Name
Developmental delay, dysmorphic facies, and brain anomalies
Description
Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) is a novel neurodevelopmental disorder characterized by global developmental delay, systemic dysmorphism, and epilepsy. It has been reported that mutations in U2AF2 cause this disease. U2AF2 encodes the large subunit of U2AF, an essential pre-mRNA splicing factor in an early step of splicing.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02993 Developmental delay, dysmorphic facies, and brain anomalies
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
nt06547 Spliceosome
H02993 Developmental delay, dysmorphic facies, and brain anomalies
