ZFIN Human Disease: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

OBO ID: DOID:0081263

Term Name:	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		Search Ontology:
Synonyms:	NEDMCR syndrome
Definition:	An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/35861185/
References:	OMIM:617913
Ontology:	Human Disease ( DOID:0081263 )

Relationships

is a type of:	autosomal recessive intellectual developmental disorder autosomal recessive intellectual developmental disorder Show first 5 Terms

OTHER neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GEMIN4	gemin4	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	617913

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None