Disease: Mental retardation macrocephaly coarse facies hypotonia
- <em>HRAS</em>-Related Costello Syndrome
- A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2
- Costello Syndrome
- Hypomelanosis of ITO. A study of 76 infantile cases
- Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2)
- The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations