Disease (OMIM:616801):
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0007069
hpo_term: Profound static encephalopathy
chpo_term: 严重的静息性脑病
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出