Disease (OMIM:618476):
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Brain abnormalities, neurodegeneration, and dysosteosclerosis

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003034
hpo_term: Diaphyseal sclerosis
chpo_term: 骨干硬化症
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0005464
hpo_term: Craniofacial osteosclerosis
chpo_term: 颅面骨硬化
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004330
hpo_term: Increased skull ossification
chpo_term: 颅骨骨化增加
id: HP:0100861
hpo_term: Sclerotic vertebral body
chpo_term: 椎体硬化
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0004975
hpo_term: Erlenmeyer flask deformity of the femurs
chpo_term: 股骨锥形瓶状变形
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000748
hpo_term: Inappropriate laughter
chpo_term: 不适宜的发笑
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍