Catalog

X-linked lissencephaly - agenesis of corpus callosum - genital anomalies

No MMS code

Link to WHO Definition

X-linked lissencephaly - agenesis of corpus callosum - genital anomalies – http://id.who.int/icd/entity/714984818

X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism.