Ontology highlight
ABSTRACT:
SUBMITTER: Saleem R
PROVIDER: S-EPMC3722619 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Indian journal of human genetics 20130101 1
MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal look ...[more]