Disease (ORPHA:457359):
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Associated phenotypes (HPO):
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001555
hpo_term: Asymmetry of the thorax
chpo_term: 胸廓不对称
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0006863
hpo_term: Severe expressive language delay
chpo_term: 严重的表达性语言发育延迟
id: HP:0007074
hpo_term: Thick corpus callosum
chpo_term: 胼胝体增厚
id: HP:0007204
hpo_term: Diffuse white matter abnormalities
chpo_term: 弥漫性脑白质异常
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭