autosomal dominant intellectual developmental disorder 56

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in he

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.

Signs and symptoms

• Intellectual disability
• Global developmental delay
• Hypotonia
• Upslanted palpebral fissure
• Long philtrum
• Thin upper lip vermilion
• High palate
• Protruding ear
• Open mouth
• Ataxia

Also known as: autosomal dominant intellectual developmental disorder-56; autosomal dominant mental retardation 56