STUTTERING, FAMILIAL PERSISTENT, 1
General Information (adopted from Orphanet):
Synonyms, Signs: |
STAMMERING STUT1 |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
184450
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001608) | Abnormality of the voice | 126 / 7739 | ||||
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(OMIM) | Stammering | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010). Stuttering typically arises in young ... |