Disease (OMIM:212720):
MARTSOLF SYNDROME
Martsolf syndrome 1

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0003992
hpo_term: Slender ulna
chpo_term: 长尺骨
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004684
hpo_term: Talipes valgus
chpo_term: 马蹄外翻足
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0004405
hpo_term: Prominent nipples
chpo_term: 乳头凸出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0010740
hpo_term: Osteopathia striata
chpo_term: 纹状骨病
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0008593
hpo_term: Prominent antitragus
chpo_term: 对耳屏突出
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0011300
hpo_term: Broad fingertip
chpo_term: 指尖变宽
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100952
hpo_term: Enlarged sylvian cistern
chpo_term: 侧裂池扩大
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾