- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Hyperconvex fingernails (HP:0001812): When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Mutism (HP:0002300): Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Echolalia (HP:0010529): Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Muscle flaccidity (HP:0010547): A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Oculomotor nerve palsy (HP:0012246): Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Skin vesicle (HP:0200037): A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:257)
- Ptosis (HP:0000508): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:257)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:257)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:257)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:257)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:257)
- Fatigable weakness (HP:0003473): A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:257)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:257)
These phenotypes are associated with the disease Epidermolysis bullosa simplex with muscular dystrophy (ORPHA:257).