Phenotypes associated with the disease Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721, an Orphanet rare-disease identifier):
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:163721)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:163721)
- Speech apraxia (HP:0011098, a Human Phenotype Ontology term): A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:163721)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:163721)
- Drooling (HP:0002307, a Human Phenotype Ontology term): Habitual flow of saliva out of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:163721)
- Bilateral tonic-clonic seizure with focal onset (HP:0007334, a Human Phenotype Ontology term): A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:163721)
- Focal-onset seizure (HP:0007359, a Human Phenotype Ontology term): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:163721)
- EEG with focal sharp waves (HP:0011196, a Human Phenotype Ontology term): EEG with focal sharp transient waves of a duration between 80 and 200 msec. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:163721)
- EEG with generalized epileptiform discharges (HP:0011198, a Human Phenotype Ontology term): EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:163721)
- Continuous spike and waves during slow sleep (HP:0031491, a Human Phenotype Ontology term): Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:163721)
- Short attention span (HP:0000736, a Human Phenotype Ontology term): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)
- Specific learning disability (HP:0001328, a Human Phenotype Ontology term): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)
- Hypernasal speech (HP:0001611, a Human Phenotype Ontology term): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)
- Incomprehensible speech (HP:0002546, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)
- Abnormally low-pitched voice (HP:0010300, a Human Phenotype Ontology term): A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)
- Abnormal prosody (HP:0031434, a Human Phenotype Ontology term): Prosody refers to the patterns of rhythm, stress, and intonation in spoken language. Abnormal prosody refers to abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization that can be heard by the observer. In general, this refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:163721)