Disease (ORPHA:439822):
PDE4D haploinsufficiency syndrome

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006009
hpo_term: Broad phalanx
chpo_term: 指（趾）骨增宽
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0008457
hpo_term: Caudal interpedicular narrowing
chpo_term: 尾骨椎弓根狭窄
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0010665
hpo_term: Bilateral coxa valga
chpo_term: 双侧髋外翻
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂