Disease (OMIM:601358):
Nicolaides-Baraitser syndrome
NICOLAIDES-BARAITSER SYNDROME

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0006237
hpo_term: Prominent interphalangeal joints
chpo_term: 指（趾）间关节突出
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:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0007946
hpo_term: Unilateral narrow palpebral fissure
chpo_term: 单侧睑裂狭小
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0012810
hpo_term: Wide nasal base
chpo_term: 宽鼻底
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0000607
hpo_term: Periorbital wrinkles
chpo_term: 眶周皱纹
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0025325
hpo_term: Sparse medial eyebrow
chpo_term: 内侧眉毛稀疏
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0100040
hpo_term: Broad 2nd toe
chpo_term: 第二趾变宽
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾