Ontology highlight
ABSTRACT:
SUBMITTER: Tuysuz B
PROVIDER: S-EPMC4864711 | biostudies-other | 2016
REPOSITORIES: biostudies-other
JIMD reports 20150729
We present a boy, admitted at 4 months, with facial dysmorphism, hypertrichosis, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (West syndrome), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space. Serum transferrin isoelectrofocusing (IEF) showed a type 1 pattern. Whole-exome genotyping showed a previously reporte ...[more]