intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (DOID:0081262)
Alliance: disease page
Alt IDs: OMIM:619556, KEGG:H02463
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.