Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Engelsk navn: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Engelske synonym: MED13L-related intellectual disability syndrome
Definisjon
A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.
Fra Orphanet
ORPHA: 369891
Klassifiseringsnivå: Disorder
ICD-10: Q87.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
