autosomal dominant intellectual developmental disorder 43

An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant m

An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.

Signs and symptoms

• Compensatory head posture
• Focal impaired awareness seizure
• Absent speech
• Dysphagia
• Delayed speech and language development
• Recurrent tonsillitis
• Syncope
• Short toe
• Gingival bleeding
• Moderately short stature

Also known as: MRD43; autosomal dominant mental retardation 43; autosomal dominant non-syndromic intellectual disability 43