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Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})."},"categories":{"Limbs":[{"id":"HP:0011304","name":"Broad thumb","metadata":{"sex":"","onset":"","frequency":"6/12","sources":["PMID:28343629"]},"category":"Limbs"},{"id":"HP:0001762","name":"Talipes equinovarus","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Limbs"},{"id":"HP:0001182","name":"Tapered finger","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Limbs"},{"id":"HP:0001845","name":"Overlapping toe","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Limbs"}],"Nervous System":[{"id":"HP:0002194","name":"Delayed gross motor development","metadata":{"sex":"","onset":"HP:0003593","frequency":"9/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0000750","name":"Delayed speech and language development","metadata":{"sex":"","onset":"","frequency":"9/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0002540","name":"Inability to walk","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Nervous System"},{"id":"HP:0002079","name":"Hypoplasia of the corpus callosum","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0002119","name":"Ventriculomegaly","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Nervous System"},{"id":"HP:0010864","name":"Severe intellectual disability","metadata":{"sex":"","onset":"","frequency":"12/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0000729","name":"Autistic behavior","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Nervous 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palate","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000637","name":"Long palpebral fissure","metadata":{"sex":"","onset":"","frequency":"6/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0002553","name":"Highly arched eyebrow","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000276","name":"Long face","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000252","name":"Microcephaly","metadata":{"sex":"","onset":"HP:0003593","frequency":"9/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0005469","name":"Flat occiput","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000494","name":"Downslanted palpebral fissures","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000248","name":"Brachycephaly","metadata":{"sex":"","onset":"","frequency":"1/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000470","name":"Short neck","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000278","name":"Retrognathia","metadata":{"sex":"","onset":"","frequency":"4/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000431","name":"Wide nasal bridge","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000343","name":"Long philtrum","metadata":{"sex":"","onset":"","frequency":"7/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000219","name":"Thin upper lip 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