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

• KEGG:H02463
• OMIM:619556

Ontology

Human Disease   ( DOID:0081262 )