Kleefstra syndrome 1

A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_mat

A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Seizure
• Generalized-onset seizure
• Focal-onset seizure
• Hypermetropia
• Recurrent infections
• Global developmental delay
• Intellectual disability
• Feeding difficulties
• Atrial septal defect

Also known as: 9q subtelomeric deletion syndrome; 9q-syndrome; 9q34 deletion syndrome