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 have verbal issues, including a complete absence of speech, delayed language development, the need for sign language, or other speech difficulties.
Development in MRD50
Last modified
7 March 2020
HPO
HP: 0001270
HP: 0001249
HP: 0000750
Feature
Can be an early sign of developmental disabilities, or may be caused by short-lived issues, such as a speech delay being caused by hearing loss from...
Rare Condition
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...
Disease
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Diagnostic criteria for intellectual disabilities (ID) have been developed by... |
