Disease (OMIM:608156):
NABLUS MASK-LIKE FACIAL SYNDROME
Nablus mask-like facial syndrome

Associated phenotypes (HPO):
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
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:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011823
hpo_term: Chin with horizontal crease
chpo_term: 髁唇沟凹陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾