Webpsychomotor regression Search For A Disorder Birk-Landau-Perez Syndrome Clinical Characteristics Ocular Features: Patients have oculomotor apraxia, saccadic pursuits, lack of fixation, and ptosis. No pigmentary changes were seen in the fundi but the optic nerves have not been described. Systemic Features: WebPsychomotor development is initially normal but deteriorates during infancy or early childhood. See also Psychomotor retardation. Non-genetic. SSPE. Subacute sclerosing panencephalitis. See under Measles. Cerebral tumour. Hypothyroidism. Heavy metal exposure/toxicity, especially.
Multiple sulfatase deficiency: MedlinePlus Genetics
WebRapid neurodegeneration including white matter disease follows, with death usually occurring by 2 years of age. Ten percent to 15% of individuals have late onset forms of the disease that are characterized by ataxia, vision loss, weakness, and psychomotor regression presenting anytime from age 6 months to the seventh decade of life. WebDevelopmental regression disease Disease or Syndrome 153 2 0.100 0 CUI: C1850493 Disease: Psychomotor regression, progressive Psychomotor regression, progressive phenotype [disgenet.org] Kohlschütter-Tönz syndrome is a rare genetic disorder with epilepsy, psychomotor regression , and a severe enamel defect with yellow or brownish ... low from playback
psychomotor regression Hereditary Ocular Diseases
WebJan 10, 2024 · Neuronal ceroid lipofuscinoses (NCLs) constitute a group of genetic neurodegenerative diseases associated with motor and cognitive regression; progressive cortical, thalamic, and cerebellar atrophy; retinopathy; epilepsy; and a shortened lifespan [1, 2].NCLs causative mutations have been mapped to at least 13 different genes, which … Web22 rows · Psychomotor development is initially normal but deteriorates during infancy or early childhood. See also Psychomotor retardation. Non-genetic. SSPE. Subacute … WebThese findings highlight that the psychomotor regression observed in CSWS syndromes is not only related to the neurophysiologic impairment at the site of the epileptic foci but … jared schwarting np