autosomal recessive intellectual developmental disorder 74

An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myo

An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.

Signs and symptoms

• Poor speech
• Delayed speech and language development
• Narrow palate
• Wide nasal bridge
• Long face
• Brachydactyly
• Seizure
• Global developmental delay
• Relative macrocephaly
• EEG with polyspike wave complexes