Disease (ORPHA:261652):
Kleefstra syndrome due to a point mutation

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0011351
hpo_term: Moderate receptive language delay
chpo_term: 语言理解中度发育延迟
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0033127
hpo_term: Abnormality of the musculoskeletal system
chpo_term: 肌肉骨骼系统异常
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0200005
hpo_term: Abnormal shape of the palpebral fissure
chpo_term: 睑裂形状异常
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化