Disease (ORPHA:97685):
NF1 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
Neurofibromatosis type 1 microdeletion syndrome
17q11 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0004562
hpo_term: Beaking of vertebral bodies T12-L3
chpo_term: T12-L3椎体鸟喙样改变
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
id: HP:0011442
hpo_term: Abnormal central motor function
chpo_term: 中枢性运动功能异常
id: HP:0025105
hpo_term: Nevus anemicus
chpo_term: 贫血痣
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000610
hpo_term: Abnormal choroid morphology
chpo_term: 脉络膜形态异常
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0007236
hpo_term: Recurrent subcortical infarcts
chpo_term: 复发性皮质下梗死
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0007524
hpo_term: Atypical neurofibromatosis
chpo_term: 非典型神经纤维瘤病
id: HP:0007850
hpo_term: Retinal vascular proliferation
chpo_term: 视网膜血管增生
id: HP:0009733
hpo_term: Glioma
chpo_term: 神经胶质瘤
id: HP:0009734
hpo_term: Optic nerve glioma
chpo_term: 视神经胶质瘤
id: HP:0010795
hpo_term: Cerebellar glioma
chpo_term: 小脑胶质瘤
id: HP:0010796
hpo_term: Brainstem glioma
chpo_term: 脑干胶质瘤
id: HP:0012492
hpo_term: Cerebral artery stenosis
chpo_term: 脑动脉狭窄
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030692
hpo_term: Brain neoplasm
chpo_term: 脑肿瘤
id: HP:0031023
hpo_term: Multiple mucosal neuromas
chpo_term: 多发性粘膜神经瘤
id: HP:0032458
hpo_term: Narrowing of medullary canal
chpo_term: 髓管狭窄
id: HP:0100008
hpo_term: Schwannoma
chpo_term: 神经鞘瘤
id: HP:0100697
hpo_term: Neurofibrosarcoma
chpo_term: 神经纤维肉瘤
id: HP:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压
id: HP:0430022
hpo_term: Abnormality of the sphenoid sinus
chpo_term: 蝶窦异常
id: HP:3000062
hpo_term: Abnormal internal carotid artery morphology
chpo_term: 颈内动脉形态异常
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:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003001
hpo_term: Glomus jugular tumor
chpo_term: 颈静脉球瘤
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0100252
hpo_term: Diaphyseal dysplasia
chpo_term: 骨干发育不良
id: HP:0100723
hpo_term: Gastrointestinal stroma tumor
chpo_term: 胃肠道间质肿瘤
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张