Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. Disease data Klasyfikacja Malformation syndrome Synonimy Ataxia-hearing loss-intellectual disability syndrome Zespół Reardona i Baraitsera Reardon-Baraitser syndrome Kod ORPHA 1188 Kod OMIM 208850 Kod ICD10 G11.1 Kod ICD11 LD2H.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl