Conditions / Nervous system
X-linked lissencephaly 2
info · Nervous system
A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.
Signs and symptoms
- Thin upper lip vermilion
- Long philtrum
- Ambiguous genitalia
- Wide anterior fontanel
- Seizure
- Hypotonia
- Agenesis of corpus callosum
- Generalized hypotonia
- Long upper lip
- Specific learning disability
Also known as: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly with ambiguous genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; XLAG; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome