Disease (ORPHA:357074):
Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type

Associated phenotypes (HPO):
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005272
hpo_term: Prominent nasolabial fold
chpo_term: 鼻唇沟突出
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0006891
hpo_term: Thick cerebral cortex
chpo_term: 大脑皮层增厚
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0007457
hpo_term: Prominent veins on trunk
chpo_term: 主干静脉隆凸。
id: HP:0007552
hpo_term: Abnormal subcutaneous fat tissue distribution
chpo_term: 皮下脂肪组织分布异常
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0025167
hpo_term: Fragmented elastic fibers in the dermis
chpo_term: 真皮弹性纤维碎裂
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0025201
hpo_term: Abnormal circulating apolipoprotein concentration
chpo_term: 载脂蛋白水平异常
id: HP:0025244
hpo_term: Subretinal pigment epithelium hemorrhage
chpo_term: 视网膜色素上皮下出血
id: HP:0010989
hpo_term: Abnormality of the intrinsic pathway
chpo_term: 内源性凝血异常
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿