Disease (ORPHA:444072):
Cerebellofaciodental syndrome
Cerebellar-facial-dental syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000675
hpo_term: Macrodontia of permanent maxillary central incisor
chpo_term: 上颌恒中切牙巨齿
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0006511
hpo_term: Laryngeal stridor
chpo_term: 喉喘鸣
id: HP:0009085
hpo_term: Alveolar ridge overgrowth
chpo_term: 牙槽嵴增生
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:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002418
hpo_term: Abnormal midbrain morphology
chpo_term: 中脑形态异常
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0005135
hpo_term: Abnormal T-wave
chpo_term: T波异常
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0007835
hpo_term: S-shaped palpebral fissures
chpo_term: S形睑裂
id: HP:0008366
hpo_term: Foot joint contracture
chpo_term: 足关节挛缩
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011406
hpo_term: Infancy onset short-trunk short stature
chpo_term: 婴儿发病的短躯干矮小症
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良