{"action":"closed","issue":{"url":"https://api.github.com/repos/obophenotype/human-phenotype-ontology/issues/3290","repository_url":"https://api.github.com/repos/obophenotype/human-phenotype-ontology","labels_url":"https://api.github.com/repos/obophenotype/human-phenotype-ontology/issues/3290/labels{/name}","comments_url":"https://api.github.com/repos/obophenotype/human-phenotype-ontology/issues/3290/comments","events_url":"https://api.github.com/repos/obophenotype/human-phenotype-ontology/issues/3290/events","html_url":"https://github.com/obophenotype/human-phenotype-ontology/issues/3290","id":279398863,"number":3290,"title":"Autosomal recessive intellectual disability 58","user":{"login":"GARDInfoCenter","id":25486376,"avatar_url":"https://avatars1.githubusercontent.com/u/25486376?v=4","gravatar_id":"","url":"https://api.github.com/users/GARDInfoCenter","html_url":"https://github.com/GARDInfoCenter","followers_url":"https://api.github.com/users/GARDInfoCenter/followers","following_url":"https://api.github.com/users/GARDInfoCenter/following{/other_user}","gists_url":"https://api.github.com/users/GARDInfoCenter/gists{/gist_id}","starred_url":"https://api.github.com/users/GARDInfoCenter/starred{/owner}{/repo}","subscriptions_url":"https://api.github.com/users/GARDInfoCenter/subscriptions","organizations_url":"https://api.github.com/users/GARDInfoCenter/orgs","repos_url":"https://api.github.com/users/GARDInfoCenter/repos","events_url":"https://api.github.com/users/GARDInfoCenter/events{/privacy}","received_events_url":"https://api.github.com/users/GARDInfoCenter/received_events","type":"User","site_admin":false},"labels":[],"state":"closed","locked":false,"assignee":null,"assignees":[],"milestone":null,"comments":4,"created_at":"2017-12-05T14:40:17Z","updated_at":"2018-03-09T18:57:30Z","closed_at":"2018-03-09T18:57:30Z","author_association":"NONE","body":"The Genetic and Rare Diseases Information Center (GARD) recently received an inquiry from a mother whose child has autosomal recessive intellectual disability 58. She was confused regarding the frequency information for the symptoms associated with this genetic condition. All the symptoms currently listed, including intellectual disability, are \"Very Rare\". We are asking that you please review the frequency designation for these symptoms. \r\n\r\n\r\nSigns and Symptoms | Approximate number of patients (when available)\r\n\r\nDelayed speech and language development | Very rare (present in 1%-4% of cases)\r\nHyperreflexia | Very rare (present in 1%-4% of cases)\r\nIntellectual disability | Very rare (present in 1%-4% of cases)\r\nMuscular hypotonia of the trunk | Very rare (present in 1%-4% of cases)\r\nPica | Very rare (present in 1%-4% of cases)\r\nPoor head control | Very rare (present in 1%-4% of cases)\r\nSelf-injurious behavior | Very rare (present in 1%-4% of cases)\r\nSpastic diplegia | Very rare (present in 1%-4% of cases)\r\nAggressive behavior | -\r\nAutosomal recessive inheritance | -\r\nChoreoathetosis | -\r\nCongenital onset | -\r\nProgressive | -\r\n\r\nThank you, \r\nMaria Della Rocca \r\nBilingual Information Specialist \r\n\r\nGenetic and Rare Diseases Information Center\r\nEmail: maria.dellarocca@icf.com"}}
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