Disease (OMIM:615032):
AUTISM, SUSCEPTIBILITY TO, 18
Intellectual developmental disorder with autism and macrocephaly

Associated phenotypes (HPO):
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011856
hpo_term: Pica
chpo_term: 异食癖
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0031354
hpo_term: Sleep onset insomnia
chpo_term: 入睡困难型失眠
id: HP:0031874
hpo_term: Late chronotype
chpo_term: 晚睡晚起
id: HP:4000081
hpo_term: Reduced use of typical gestures
chpo_term: 典型手势使用减少
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0032012
hpo_term: Heterotropia
chpo_term: 显性斜视
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:5200018
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:4000073
hpo_term: Pronoun reversal
chpo_term: 代名词反转
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0025352
hpo_term: Typically de novo
chpo_term: 典型的新生突变
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0400000
hpo_term: Tall chin
chpo_term: 高下巴
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突