Disease (OMIM:620662):
HOXHA-ALIU SYNDROME
Hoxha-Aliu syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004288
hpo_term: Pseudoepiphyses of hand bones
chpo_term: 手骨假骨骺
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0008093
hpo_term: Short 4th toe
chpo_term: 第四趾短
id: HP:0001849
hpo_term: Foot oligodactyly
chpo_term: 少趾畸形
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0004570
hpo_term: Increased vertebral height
chpo_term: 椎体高度增加
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001814
hpo_term: Deep-set nails
chpo_term: 嵌甲
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0004689
hpo_term: Short fourth metatarsal
chpo_term: 第四跖骨短
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:6000891
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:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0008079
hpo_term: Absent fifth metatarsal
chpo_term: 第五跖骨缺失
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0009276
hpo_term: Contracture of the proximal interphalangeal joint of the 4th finger
chpo_term: 第四指的近端指间关节挛缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0004704
hpo_term: Short fifth metatarsal
chpo_term: 第五跖骨过短
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0009638
hpo_term: Short proximal phalanx of thumb
chpo_term: 拇指近节指骨缩短
id: HP:0004425
hpo_term: Flat forehead
chpo_term: 额头扁平
id: HP:0004227
hpo_term: Short distal phalanx of the 5th finger
chpo_term: 第五指末节指骨短