Callosome

Gene: ZNF462

Green List (high evidence)

Multiple congenital anomaly syndrome characterised by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations.

Created: 20 Mar 2020, 4:55 a.m. | Last Modified: 20 Mar 2020, 4:55 a.m.

Panel Version: 0.113

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Weiss-Kruszka syndrome, MIM#618619

Publications

• 28513610
• 31361404