Disease (ORPHA:397941):
Intellectual disability-truncal obesity syndrome
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
MAN1B1-CDG

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0012301
hpo_term: Type II transferrin isoform profile
chpo_term: II型转铁蛋白异构体谱
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0004523
hpo_term: Long eyebrows
chpo_term: 长眉
id: HP:0010801
hpo_term: Underdeveloped nasolabial fold
chpo_term: 鼻唇区发育不全
id: HP:0010814
hpo_term: Abnormal position of hair whorl
chpo_term: 发旋位置异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0012472
hpo_term: Eclabion
chpo_term: 唇外翻