Disease: Microcephaly micropenis convulsions
- Bilateral optic nerve hypoplasia
- Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review
- DYRK1A mutations in two unrelated patients
- Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
- Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis
- Microcephaly with large anterior fontanelle, generalized convulsions, micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome?
- Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome
- Two siblings with a new Aicardi-Goutières-like syndrome
- Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities