Disease (OMIM:616541):
Short stature, microcephaly, and endocrine dysfunction
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION

Associated phenotypes (HPO):
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式