X-linked lissencephaly with abnormal genitalia

What is X-linked lissencephaly with abnormal genitalia?

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

Other condition names

• X-linked lissencephaly with ambiguous genitalia
• X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
• XLAG (X-linked lissencephaly with abnormal genitalia) syndrome

Inheritance type

X-linked recessive

Prevalence

• Worldwide: Unknown

Age of Onset

• Neonatal