Disease (ORPHA:35069):
INAD1
Seitelberger disease
Phospholipase A2-associated neurodegeneration
Infantile neuroaxonal dystrophy
INAD
PLAN

Associated phenotypes (HPO):
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0003405
hpo_term: Diffuse axonal swelling
chpo_term: 弥漫性轴索肿胀
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012675
hpo_term: Iron accumulation in brain
chpo_term: 脑内铁累积
id: HP:0012698
hpo_term: Cerebellar gliosis
chpo_term: 小脑胶质细胞增生
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0005949
hpo_term: Apneic episodes in infancy
chpo_term: 婴儿期呼吸暂停
id: HP:0010545
hpo_term: Downbeat nystagmus
chpo_term: 下击型眼球震颤
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态