Disease (ORPHA:35107):
Desmosterolosis

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
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:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出