disease has major feature syndromic intellectual disability congenital nervous system disorder eye disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/global_developmental_delay_visual_anomalies_progressive_cerebellar_atrophy_truncal_hypotonia_syndrome MONDO:0018822 Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). GARD:0017871 MEDGEN:1798945 UMLS:C5567522 central nervous system malformation