- Deficit in grammar (HP:0006977): Deficit in grammar, including syntax and morphology. Evidence: PCS. (PMID:11586359)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. (PMID:11586359)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: PCS. (PMID:11586359)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:11586359)
- Oromotor apraxia (HP:0007301): Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control. Evidence: PCS. (PMID:11586359)
- Incomprehensible speech (HP:0002546). Evidence: PCS. (PMID:11586359)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11586359)
These phenotypes are associated with the disease childhood apraxia of speech (OMIM:602081).