Disease (ORPHA:391408):
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0007258
hpo_term: Severe demyelination of the white matter
chpo_term: 严重白质脱髓鞘
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010344
hpo_term: Deviation of the 5th toe
chpo_term: 第五趾偏斜
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011308
hpo_term: Slender toe
chpo_term: 修长趾
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0025383
hpo_term: Dorsocervical fat pad
chpo_term: 颈背部脂肪垫
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜