Disease (ORPHA:59):
AHDS
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome
MCT8 deficiency
Allan-Herndon-Dudley syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002926
hpo_term: Abnormality of thyroid physiology
chpo_term: 甲状腺生理功能异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011788
hpo_term: Increased circulating free T3
chpo_term: 血液游离T3升高
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0045082
hpo_term: Decreased body mass index
chpo_term: 体重指数下降
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0004488
hpo_term: Macrocephaly at birth
chpo_term: 出生时巨头畸形
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍