Dentici-Novelli Neurodevelopmental Syndrome

Alternative Names


Associated Genes

Zinc Finger Protein 526
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Dentici-Novelli neurodevelopmental syndrome (DENNED) is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development apparent from infancy. The severity of the phenotype is highly variable: more severely affected individuals have axial hypotonia, peripheral spasticity, microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Those with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619877.1Saudi Arabia Intellectual disability; Valvular pulmon...NM_133444.3:c.479A>CHomozygousAutosomal, RecessiveAlazami et al. 2015 Patient had Noonan-l...
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