Disease (OMIM:236670):
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0012793
hpo_term: Kinked brainstem
chpo_term: 脑干扭结
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000050
hpo_term: Hypoplastic male external genitalia
chpo_term: 男性外生殖器发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
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:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002438
hpo_term: Cerebellar malformation
chpo_term: 小脑畸形
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0006888
hpo_term: Meningoencephalocele
chpo_term: 脑膜脑膨出