順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (39.0%) |
30912300 |
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS. Am J Med Genet A. 2019;179(6):1053-1057. |
小頭 | ||
HHAT | ||
c|SUB|T|770|C;RS#:780669166 p|SUB|L|257|P;RS#:761454249 | ||
DNA変異解析 アシル基転移酵素 ヒト ミスセンス変異 女 子供 子供(未就学) 対立遺伝子 小頭症 新生児 疾患の遺伝的素因 磁気共鳴画像法 表現型 遺伝子関連解析 顔貌 |
合計: 22
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000252 | 小頭 | Very frequent (99-80%) |
HP:0000400 | 大耳 | Very frequent (99-80%) |
HP:0000506 | 内眼角外方偏位 | Very frequent (99-80%) |
HP:0000774 | 狭い胸郭 | Very frequent (99-80%) |
HP:0001249 | 知的障害 | Very frequent (99-80%) |
HP:0001511 | 子宮内成長遅滞 | Very frequent (99-80%) |
HP:0002644 | 骨盤帯骨の形態異常 | Very frequent (99-80%) |
HP:0002983 | 小肢症 | Very frequent (99-80%) |
HP:0003043 | 肩の異常 | Very frequent (99-80%) |
HP:0003510 | 重度の低身長 | Very frequent (99-80%) |
HP:0004330 | 頭蓋骨骨化増加 | Very frequent (99-80%) |
HP:0005622 | 幅広い長管骨 | Very frequent (99-80%) |
HP:0009803 | 短い指骨 | Very frequent (99-80%) |
HP:0010049 | 短い中手骨 | Very frequent (99-80%) |
HP:0000037 | 男性仮性半陰陽 | Frequent (79-30%) |
HP:0000486 | 斜視 | Frequent (79-30%) |
HP:0000490 | 落ちくぼんだ眼 | Frequent (79-30%) |
HP:0000567 | 脈絡膜網膜コロボーマ | Frequent (79-30%) |
HP:0000581 | 眼瞼裂狭小 | Frequent (79-30%) |
HP:0000616 | 縮瞳 | Frequent (79-30%) |
HP:0001322 | 非常に小さな脳 | Frequent (79-30%) |
HP:0007676 | 虹彩低形成 | Frequent (79-30%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|