Preferred Label : Stuttering, familial persistent, 1;
Symbol : STUT1;
CISMeF acronym : STUT1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : STAMMERING;
Description : 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 children, where
it affects at least 15% of those in age range 4 to 6 years (Bloodstein, 1995). Stuttering
usually resolves spontaneously before adolescence, leading to a population prevalence
of 1 to 2% among adults. Stuttering beyond childhood is characterized by a significant
bias towards males, with males outnumbering females by a ratio of 3:1 to 5:1 (Yairi
et al., 1996). - Genetic Heterogeneity of Familial Persistent Stuttering;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the adaptor-related protein complex 4, epsilon-1 subunit gene
(AP4E1, 607244.0004);
Prefixed ID : #184450;
Origin ID : 184450;
UMLS CUI : C3489627;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
