dystonia 28, childhood-onset

A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or

A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13.

Signs and symptoms

• Dystonia
• Mild intellectual disability
• Microcephaly
• Delayed speech and language development
• Global developmental delay
• Astigmatism
• Short stature
• Oromandibular dystonia
• Laryngeal dystonia
• Craniofacial dystonia

Also known as: DYSTONIA 28, CHILDHOOD-ONSET; DYT28