Disease (ORPHA:83617):
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Associated phenotypes (HPO):
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0031190
hpo_term: Superficial dermal perivascular inflammatory infiltrate
chpo_term: 真皮浅层血管周围炎性浸润
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000890
hpo_term: Long clavicles
chpo_term: 长锁骨
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0004425
hpo_term: Flat forehead
chpo_term: 额头扁平
id: HP:0004616
hpo_term: Cleft vertebral arch
chpo_term: 椎弓裂
id: HP:0005365
hpo_term: Severe B lymphocytopenia
chpo_term: 重型B淋巴细胞减少症
id: HP:0006560
hpo_term: Biliary hyperplasia
chpo_term: 胆管增生
id: HP:0009697
hpo_term: Contracture of the distal interphalangeal joint of the fingers
chpo_term: 远端指关节挛缩
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩