| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 24 (4.0%) |
7086587 |
Comparison of treated and untreated pregnancies in a mother with phenylketonuria. Levy HL, Kaplan GN, Erickson AM. J Pediatr. 1982;100(6):876-80. |
| 自然流産 | ||
| ヒト フェニルケトン尿症 女 妊娠 妊娠合併症 子供 子供（未就学） 小頭症 成人 知的障害 | ||
| 24 (4.0%) |
2328170 |
Origin of the left coronary artery from the right pulmonary artery and ventricular septal defect in a child of a mother with raised plasma phenylalanine concentrations throughout pregnancy. Henglein D, Niederhoff H, Bode H. Br Heart J. 1990;63(3):180-2. |
| 心室中隔欠損 | ||
| ヒト 先天性心疾患 冠血管異常 女 妊娠 妊娠合併症 幼児 心エコー 心室中隔欠損症 母胎胎児間交換 胎児発育遅延 | ||
| 24 (4.0%) |
1779621 |
Agoraphobia in phenylketonuria. Waisbren SE, Levy HL. J Inherit Metab Dis. 1991;14(5):755-64. |
| 広場恐怖症 | ||
| ヒト フェニルケトン尿症 女 広場恐怖 成人 男 知的障害 縦断的研究 | ||
| 24 (4.0%) |
1442884 |
Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria. Levy HL, Lobbregt D, Sansaricq C, Snyderman SE. Am J Med Genet. 1992;44(4):439-42. |
| 子宮内成長遅滞 | ||
| ヒト フェニルケトン尿症 女 妊娠 妊娠合併症 子供 子供（未就学） 小頭症 成人 男 知的障害 |
合計: 32
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0001627 | 心形態の異常 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0001249 | 知的障害 | Frequent (79-30%) |
| HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
| HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
| HP:0001680 | 大動脈縮窄 | Frequent (79-30%) |
| HP:0001999 | 異常な顔の形 | Frequent (79-30%) |
| HP:0004383 | 左心低形成 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Occasional (29-5%) |
| HP:0000343 | 長い人中 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0000431 | 幅広い鼻梁 | Occasional (29-5%) |
| HP:0000463 | 上向きの鼻孔 | Occasional (29-5%) |
| HP:0000752 | 多動 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0001629 | 心室中隔欠損 | Occasional (29-5%) |
| HP:0001636 | Fallot 四徴症 | Occasional (29-5%) |
| HP:0001719 | 両大血管右室起始症 | Occasional (29-5%) |
| HP:0002079 | 脳梁低形成 | Occasional (29-5%) |
| HP:0000286 | 内眼角贅皮 | Very rare (4-1%) |
| HP:0000340 | 額傾斜 | Very rare (4-1%) |
| HP:0000486 | 斜視 | Very rare (4-1%) |
| HP:0000601 | 両眼接近 | Very rare (4-1%) |
| HP:0001156 | 短指症候群 | Very rare (4-1%) |
| HP:0001488 | 両側性眼瞼下垂 | Very rare (4-1%) |
| HP:0002032 | 食道閉鎖 | Very rare (4-1%) |
| HP:0002836 | 膀胱外反症 | Very rare (4-1%) |
| HP:0004411 | 鼻中隔彎曲 | Very rare (4-1%) |
| HP:0008589 | 耳輪低形成 | Very rare (4-1%) |
| HP:0009611 | 二分した母指末節骨 | Very rare (4-1%) |
| HP:0012210 | 腎形態異常 | Very rare (4-1%) |
| HP:0030084 | Clinodactyly | Very rare (4-1%) |
合計: 10
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000252 | 小頭 | 10 |
| HP:0000756 | 広場恐怖症 | 1 |
| HP:0001249 | 知的障害 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0001629 | 心室中隔欠損 | 1 |
| HP:0002023 | 鎖肛 | 1 |
| HP:0002079 | 脳梁低形成 | 1 |
| HP:0004923 | 高フェニールアラニン血症 | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0100543 | 認知障害 | 1 |