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Table 4 Significantly Overrepresented Transamidase+Remodeling-Group Phenotypes

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

HPO IDTerm NameSynthesis Group (patients with phenotype/total)Synthesis Group (%)Transamidase+Remodeling Group (patients with phenotype/total)Transamidase+Remodeling Group (%)Corrected p-value
HP:0002360Sleep disturbance0/930.0013/5922.030.00047
HP:0012759Neurodevelopmental abnormality68/9373.1258/5998.310.01235
HP:0000708Behavioral abnormality14/9315.0525/5942.370.03610
HP:0012758Neurodevelopmental delay57/9361.2954/5991.530.00898
HP:0001249Intellectual disability15/9316.1339/5966.100.00000
HP:0003330Abnormal bone structure3/933.2315/5925.420.00773
HP:0011849Abnormal bone ossification2/932.1515/5925.420.00193
HP:0004348Abnormality of bone mineral density2/932.1515/5925.420.00193
HP:0004349Reduced bone mineral density2/932.1515/5925.420.00193
HP:0000938Osteopenia2/932.1513/5922.030.01305
HP:0000400Macrotia2/932.1515/5925.420.00193
HP:0002265Large fleshy ears1/931.0814/5923.730.00106
HP:0000366Abnormality of the nose26/9327.9636/5961.020.01119
HP:0100737Abnormal hard palate morphology6/936.4517/5928.810.03743
HP:0000202Oral cleft6/936.4518/5930.510.01556
HP:0000175Cleft palate6/936.4517/5928.810.03743