Microcephaly-seizures-intellectual disability-heart disease syndrome

A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 0 (症例報告)

  


(表示件数)
対応する徴候・症状  遺伝子  変異  キーワード(MeSH)
順位
(類似度)
PMID
(PMCID)
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 24

HPO ID 徴候・症状 頻度
HP:0000054 小陰茎 Very frequent (99-80%)
HP:0000851 先天性甲状腺機能低下症 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001250 発作 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001631 心房中隔欠損 Very frequent (99-80%)
HP:0006934 先天性眼振 Very frequent (99-80%)
HP:0008947 乳児筋性筋緊張低下 Very frequent (99-80%)
HP:0000028 停留精巣 Frequent (79-30%)
HP:0000252 小頭 Frequent (79-30%)
HP:0000286 内眼角贅皮 Frequent (79-30%)
HP:0000565 内斜視 Frequent (79-30%)
HP:0000766 胸骨の異常 Frequent (79-30%)
HP:0000772 肋骨の異常 Frequent (79-30%)
HP:0000773 短い肋骨 Frequent (79-30%)
HP:0000885 幅広い肋骨 Frequent (79-30%)
HP:0001162 軸後性多指症 Frequent (79-30%)
HP:0001629 心室中隔欠損 Frequent (79-30%)
HP:0001643 動脈管開存症 Frequent (79-30%)
HP:0002079 脳梁低形成 Frequent (79-30%)
HP:0002092 肺高血圧 Frequent (79-30%)
HP:0002098 呼吸窮迫 Frequent (79-30%)
HP:0002558 副甲状腺乳頭 Frequent (79-30%)
HP:0005989 豊富な頸部皮膚 Frequent (79-30%)


徴候・症状リスト(症例報告から取得)

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID