XLAG syndrome : the first reported case in Jordan

Abstract EN

XLAG syndrome ( OMIM: 300382): is a very rare X-linked syndrome characterized by abnormal brain development ( smooth brain or Lissencephaly) which results in severe neurological symptoms, and genital anomalies (Ambigious Genitalia ).

Males manifest the full severity of symptoms whereas female carriers are asymptomatic or suffer only mild symptoms.

Here we are reporting the first case of XLAG syndrome in Jordan that had the common features of lissenocephaly, ambigious genitalia , and neonatal refractory seizures.