Autosomal dominant mental retardation-50

Autosomal dominant mental retardation-50 is associated with NAA15 gene mutations in large cohorts of DNA samples of people with mild to severe developmental delay and/or intellectual disability, including more specific delayed speech and language.  

The phenotype seems to be variable. All individuals have some degree of neurodevelopmental disability, including impaired motor abilities with mild late milestones achievements such as delayed walking and impaired language development. Sometimes the diagnosis of autism spectrum disorder is established. There are some facial features, but a consistent pattern has not been evolved. A subgroup seems to have cardiac anomalies.

Individuals have been diagnosed by Whole Exome Sequencing or Gene Panels or Packages.

Last modified
7 May 2020
Abbreviation
MRD50
OMIM

OMIM # 617787

General Medical Guideline
NAA15 mutations are associated with having a variable degree of neurodevelopmental disabilities, including impaired motor abilities, intellectual disability, impaired verbal abilities, and an autism spectrum...
Disease
Symptom
Impaired motor function, including fine-motor difficulties, ataxia, abnormality of movement, delayed motor development, and hypotonia. Variable degrees of intellectual disability, The majority of affected individuals...
The NAA 15 gene is located on chromosome nr 4. A mutation causing developmental and intellectual disabilities can be inherited from one of the parents.
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