autosomal dominant intellectual developmental disorder 7

An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_mat

An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13.

Signs and symptoms

• Generalized hypotonia
• Patent ductus arteriosus
• Downslanted palpebral fissures
• Microcephaly
• Birth length less than 3rd percentile
• Feeding difficulties
• Global developmental delay
• Limb hypertonia
• Recurrent otitis media
• Optic atrophy

Also known as: DYRK1A syndrome; MRD7; autosomal dominant mental retardation 7; autosomal dominant non-syndromic intellectual disability 7