Developmental hereditary disorder
Hereditary disorder of nervous system
Type 1 lissencephaly
X-linked hereditary disease
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Lissencephaly type 1 due to doublecortin gene mutation (disorder)
Lissencephaly type 1 due to doublecortin gene mutation
X-linked lissencephaly type 1
A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as doublecortex or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations.
lissencefalie type 1 door mutatie van 'doublecortin'-gen
X-gebonden lissencefalie type 1
lissencefalie type 1 door DCX-mutatie
Id715780008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteBrain structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified