Disease Term Disease ID Gene Symbol Classification References Source
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY C4284592 KIDINS220 Causal Pathogenic evidence from ClinVar 27005418, 29667355 ClinVar
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome 521390 KIDINS220 Causal Pathogenic evidence from ClinVar - ClinVar