STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Engelsk navn: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Definisjon
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).
Fra Orphanet
ORPHA: 502434
Klassifiseringsnivå: Disorder
ICD-10: Q87.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
