Disease: Mental retardation epilepsy bulbous nose
- Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
- Complete trisomy 22
- Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
- Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis
- Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
- Pitt-Hopkins syndrome in two patients and further definition of the phenotype
- Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?
- Syndrome of psychomotor retardation, bulbous nose, and epilepsy