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Article

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2018

Pascolini Giulia, Agolini Emanuele, Majore Silvia, Novelli Antonio, Grammatico Paola, Digilio Maria Cristina

Abstract excerpt

A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29475819
DOI: 10.1016/j.ejpn.2018.01.024

Genes

ADNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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