Disease (ORPHA:357058):
Autosomal recessive cutis laxa type 2A
ARCL2A

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003160
hpo_term: Abnormal isoelectric focusing of serum transferrin
chpo_term: 血清转铁蛋白的等电位聚焦异常
id: HP:0004474
hpo_term: Persistent open anterior fontanelle
chpo_term: 前囟持续不闭合
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0025082
hpo_term: Abnormal cutaneous elastic fiber morphology
chpo_term: 皮肤弹性纤维形态异常
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002438
hpo_term: Cerebellar malformation
chpo_term: 小脑畸形
id: HP:0005272
hpo_term: Prominent nasolabial fold
chpo_term: 鼻唇沟突出
id: HP:0005445
hpo_term: Enlarged posterior fossa
chpo_term: 后颅窝增宽
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0006891
hpo_term: Thick cerebral cortex
chpo_term: 大脑皮层增厚
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002334
hpo_term: Abnormal cerebellar vermis morphology
chpo_term: 小脑蚓部形态异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊