Ontology highlight
ABSTRACT:
SUBMITTER: Hadzsiev K
PROVIDER: S-EPMC4766673 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Hadzsiev Kinga K Komlosi Katalin K Czako Marta M Duga Balazs B Szalai Renata R Szabo Andras A Postyeni Etelka E Szabo Titanilla T Kosztolanyi Gyorgy G Melegh Bela B
Molecular cytogenetics 20160225
<h4>Background</h4>Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia. Some additional symptoms are observed in different percentage of the patients. Epilepsy is common symptom as well. The unde ...[more]