Disease (ORPHA:98794):
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13

Associated phenotypes (HPO):
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0004485
hpo_term: Cessation of head growth
chpo_term: 头部生长停滞
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011203
hpo_term: EEG with abnormally slow frequencies
chpo_term: 伴异常缓慢频率的脑电图
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000748
hpo_term: Inappropriate laughter
chpo_term: 不适宜的发笑
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0100703
hpo_term: Tongue thrusting
chpo_term: 吐舌习惯
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0010505
hpo_term: Limitation of movement at ankles
chpo_term: 踝关节运动受限
id: HP:0033063
hpo_term: Shortened sleep cycle
chpo_term: 睡眠周期缩短
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
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