OBO ID: DOID:0070346
Term Name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies Search Ontology:
Synonyms:
Definition: A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. https://www.ncbi.nlm.nih.gov/pubmed/618571
References:
Ontology: Human Disease   ( DOID:0070346 )
Relationships
is a type of:
OTHER neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
INTS1 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 618571
ZEBRAFISH MODELS
Fish Conditions Citations
ints1s4002b/+; ints1s4002a/+ standard conditions Krall et al., 2019
PHENOTYPE No data available

CITATIONS (1)
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