ZFIN Human Disease: Sandestig-Stefanova syndrome

OBO ID: DOID:0081272

Term Name:	Sandestig-Stefanova syndrome		Search Ontology:
Synonyms:
Definition:	A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. (2)
References:	OMIM:618804
Ontology:	Human Disease ( DOID:0081272 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NUP188	nup188	Sandestig-Stefanova syndrome	618804

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None