MedGen

EEG with focal sharp transient waves of a duration between 80 and 200 msec. [from HPO]

EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. [from HPO]

EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. [from HPO]

EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [from HPO]

EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [from HPO]

EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [from HPO]

EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. [from HPO]

EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. As with all CLNs, CLN6A is characterized pathologically by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6A comprises mixed combinations of 'curvilinear' and 'fingerprint' profiles (summary by Sharp et al., 2003; Mole et al., 2005). For a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. [from HPO]

A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated. [from ORDO]

EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. [from HPO]

EEG with focal sharp transient waves of a duration less than 80 msec. [from HPO]

EEG with generalized sharp transient waves of a duration less than 80 msec. [from HPO]