Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies

Preferred Label : Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies;

NCIt synonyms : IDDHISD;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the TNPO2 gene, encoding transportin-2. It is characterized by intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD).;

Details

Origin ID

C210890;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

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