Phenotypes associated with the disease progressive bulbar palsy of childhood (OMIM:211500, an entry in Online Mendelian Inheritance in Man):
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: IEA. (OMIM:211500)
- Progressive inspiratory stridor (HP:0005951, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:211500)
- Bulbar palsy (HP:0001283, a Human Phenotype Ontology term): Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. Evidence: IEA. (OMIM:211500)
- Diaphragmatic weakness (HP:0009113, a Human Phenotype Ontology term): A decrease in the strength of the diaphragm. Evidence: IEA. (OMIM:211500)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:211500)
- Generalized hyperreflexia (HP:0007034, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:211500)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:211500)
- Facial diplegia (HP:0001349, a Human Phenotype Ontology term): Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). Evidence: IEA. (OMIM:211500)