Disease (ORPHA:99843):
Rambam-Hasharon syndrome
SLC35C1-CDG
CDG-IIc
LAD-II
Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG2C

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000166
hpo_term: Severe periodontitis
chpo_term: 重度牙周炎
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0007041
hpo_term: Chronic lymphocytic meningitis
chpo_term: 慢性淋巴细胞性脑膜炎
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0011341
hpo_term: Long upper lip
chpo_term: 上唇肥厚
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0031629
hpo_term: Impaired tandem gait
chpo_term: 踵趾步态
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0410292
hpo_term: Abnormal isohemagglutinin level
chpo_term: 同种红细胞血凝素水平异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为