Disease (ORPHA:258):
Merosin-negative congenital muscular dystrophy
MDC1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
CMD1A
Laminin subunit alpha 2-related congenital muscular dystrophy
Congenital muscular dystrophy type 1A

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0009025
hpo_term: Increased connective tissue
chpo_term: 结缔组织增多
id: HP:0030091
hpo_term: Absent muscle fiber merosin
chpo_term: 肌纤维层粘连蛋白α2缺乏
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0010754
hpo_term: Abnormality of the temporomandibular joint
chpo_term: 颞下颌关节异常
id: HP:0012747
hpo_term: Abnormal brainstem MRI signal intensity
chpo_term: 脑干核磁共振信号强度异常
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004878
hpo_term: Intercostal muscle weakness
chpo_term: 肋间肌无力
id: HP:0006879
hpo_term: Pontocerebellar atrophy
chpo_term: 脑桥小脑萎缩
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全