An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
polymicrogyria
MONDO:0000087
Neu-Laxova syndrome
MONDO:0000179
congenital myasthenic syndrome with tubular aggregates
MONDO:0000182
prenatal-onset spinal muscular atrophy with congenital bone fractures
MONDO:0000209
anencephaly
MONDO:0000819
cerebral cavernous malformation
MONDO:0000820