Catalan Síndrome de Von Hippel-Lindau Cited by user Cunillera on 09 Dec 2023 La síndrome de Von Hippel-Lindau (VHL), també coneguda com a angiomatosi familiar cerebeloretiniana, és una malaltia genètica rara d'herència autosòmica dominant amb…
English Oculomotor apraxia Cited by user RoadTrain on 30 Jan 2023 Oculomotor apraxia (OMA) is the absence or defect of controlled, voluntary, and purposeful eye movement.
English Trichothiodystrophy Cited by user Rjwilmsi on 11 Apr 2020 Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment.