RERE-related neurodevelopmental syndrome
Engelsk navn: RERE-related neurodevelopmental syndrome
Definisjon
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
Fra Orphanet
ORPHA: 494344
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)
