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Metadata
ID	DOID:0081262
Name	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
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/
Xrefs	KEGG:H02463 MIM:619556
Parent Relationships	is_a autosomal dominant intellectual developmental disorder