Homozygous pathogenic variants in the DEAF1 gene cause:
- hypotonia
- intellectual disability with severe speech impairment or absent speech;
- movement disorder, such as dyskinesia and stereotypic movements;
- epilepsy (status epilepticus occurred repeatedly in one patient);
- brain abnormalities, such as white matter and basal ganglia lesions.
Severe behavioral problems, namely autism and self-aggression, and sleep disturbance were observed in some patients.
Microcephaly occurred in one patient.
Dysmorphisms are mild or absent in these patients.