ZFIN Human Disease: Alkuraya-Kucinskas syndrome

OBO ID: DOID:0111555

Term Name:	Alkuraya-Kucinskas syndrome		Search Ontology:
Synonyms:	ALKKUCS
Definition:	A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. (2)
References:	OMIM:617822
Ontology:	Human Disease ( DOID:0111555 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Alkuraya-Kucinskas syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KIAA1109	kiaa1109	Alkuraya-Kucinskas syndrome	617822

ZEBRAFISH MODELS

Fish	Conditions	Citations
TU + MO1-kiaa1109	standard conditions	Gueneau et al., 2017
TU + MO2-kiaa1109	standard conditions	Gueneau et al., 2017

PHENOTYPE No data available

CITATIONS (1)