autosomal dominant intellectual developmental disorder 34

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3.

Signs and symptoms

• Intellectual disability
• Global developmental delay
• Bilateral tonic-clonic seizure
• Epicanthus
• Upslanted palpebral fissure
• Hearing impairment
• Short foot
• Anteverted nares
• Cerebral visual impairment
• Smooth philtrum

Also known as: MRD34; autosomal dominant mental retardation 34; autosomal dominant non-syndromic intellectual disability 34; neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies