ZFIN Human Disease: pontocerebellar hypoplasia type 1B

OBO ID: DOID:0060266

Term Name:	pontocerebellar hypoplasia type 1B		Search Ontology:
Synonyms:
Definition:	A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. https://www.omim.org/entry/614678
References:	OMIM:614678 ORDO:2254
Ontology:	Human Disease ( DOID:0060266 )

Relationships

is a type of:	autosomal recessive disease pontocerebellar hypoplasia type 1 autosomal recessive disease pontocerebellar hypoplasia type 1 Show first 5 Terms

OTHER pontocerebellar hypoplasia type 1B PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EXOSC3	exosc3	Pontocerebellar hypoplasia, type 1B	614678

ZEBRAFISH MODELS

Fish	Conditions	Citations
WT	chemical treatment by environment: (4-hydroxy-3,4-dihydroisoquinolin-2(1H)-yl)[3-(3-hydroxy-3-methylbutyl)phenyl]methanone	Francois-Moutal et al., 2018
WT + MO1-exosc3	standard conditions	Francois-Moutal et al., 2018

PHENOTYPE No data available

CITATIONS (1)