OBO ID: DOID:0070339
Term Name: cerebellar hyplasia/atrophy, epilepsy, and global developmental delay Search Ontology:
Synonyms:
Definition: A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. https://pubmed.ncbi.nlm.nih.gov/31785787/
References:
Ontology: Human Disease   ( DOID:0070339 )
Relationships
is a type of:
OTHER cerebellar hyplasia/atrophy, epilepsy, and global developmental delay PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OXR1 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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