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Entry Name Description Category Pathway Gene
H02082 Floating-Harbor syndrome Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease. Congenital malformation SRCAP [HSA:10847] [KO:K11661]
H02685 Developmental delay with neuropsychiatric disorders Developmental delay with neuropsychiatric disorders is a group of neurodevelopmental disorders characterized by global developmental delay and neurologic deficits. Additional features may include speech ... Congenital malformation (DIGFAN) MORC2 [HSA:22880] [KO:K24135]
(DDISBA) SPTBN1 [HSA:6711] [KO:K06115]
(DEHMBA) SRCAP [HSA:10847] [KO:K11661]
(DENBA) LMBRD2 [HSA:92255]
(DEDISB) ARFGEF1 [HSA:10565] [KO:K18442]
(DEDHIL) FBXW7 [HSA:55294] [KO:K10260]
(DEDBANP) ADGRL1 [HSA:22859] [KO:K04592]
(DEVLO) ARPC4 [HSA:10093] [KO:K05755]
(DEDHMB) GOLGA2 [HSA:2801] [KO:K20358]
(DDDS) MANF [HSA:7873] [KO:K22556]
(DDVIBA) TCF20 [HSA:6942] [KO:K24769]
(DIDOD) PHIP [HSA:55023] [KO:K11797]
(DDIB) TAOK1 [HSA:57551] [KO:K04429]
(DEVDFB) U2AF2 [HSA:11338] [KO:K12837]
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