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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8557835
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19031
Name: NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)
Acc ID: DOID:0050560
Term: Walker-Warburg syndrome
Definition: Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
Definition Source(s): https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome "DO", MESH:D058494
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV19031 IAGP 8554872ClinVarClinVar Annotator: match by term: Muscle eye brain disease

PMID:15236414 PMID:16427280 PMID:17906881 PMID:21361872 PMID:25390965 PMID:25741868 PMID:26467025 PMID:28492532
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