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Helsmoortel-Van der Aa syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
Helsmoortel-Van der Aa syndrome
Unique ID
C000730394
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C000730394
Entry Term(s)
HVDAS
Registry Numbers
0
Heading Mapped to
*Heart Diseases
*Facies
*Neurodevelopmental Disorders
*Autism Spectrum Disorder
Note
A neurodevelopmental disorder characterized by impaired intellectual development, motor delay, autism spectrum disorder, facial dysmorphisms, hypotonia, congenital heart disease, visual impairment, and gastrointestinal symptoms. It is associated with mutations in the ADNP gene. OMIM: 615873
Date of Entry
2024/03/13
Revision Date
2024/03/13
Helsmoortel-Van der Aa syndrome Preferred
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