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Human Disease

intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Term ID
DOID:0081262
Synonyms
Definition
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/34314705/
References
Ontology
Human Disease   ( DOID:0081262 )
Relationships
is a type of
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Genes Involved
Zebrafish Models