SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1300188000
http://purl.bioontology.org/ontology/SNOMEDCT/1300188000
Preferred Name

Congenital pontocerebellar hypoplasia type 11

Definitions
A form of pontocerebellar hypoplasia characterised by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioural abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.
Synonyms
Pontocerebellar hypoplasia due to TBC1D23 mutation
PCH11 - pontocerebellar hypoplasia type 11
Congenital pontocerebellar hypoplasia type 11 (disorder)
Type http://www.w3.org/2002/07/owl#Class
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