Details of Disease

General Information of Disease (ID: DISQC4FD)

Disease Name Pontocerebellar hypoplasia, type 11
Synonyms pontocerebellar hypoplasia, type 11; Pontocerebellar hypoplasia due to TBC1D23; PCH11
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISQC4FD: Pontocerebellar hypoplasia, type 11
Disease Identifiers
MONDO ID
MONDO_0054669
UMLS CUI
C4540164
OMIM ID
617695
MedGen ID
1627627
Orphanet ID
611247

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBC1D23 OTJMGQNZ Strong Autosomal recessive [1]
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References

1 Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.