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Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
ORPHA:522077 · Disease · Disorder
HPO 表現型（共 60 項）
Very frequent (99-80%)(6)
- Absent speechHP:0001344
- Autistic behaviorHP:0000729
- EEG abnormalityHP:0002353
- Floppy infantHP:0008947
- Motor delayHP:0001270
- Severe global developmental delayHP:0011344
Frequent (79-30%)(12)
- EsotropiaHP:0000565
- Gastroesophageal refluxHP:0002020
- Hyperkinetic movementsHP:0002487
- Intellectual disabilityHP:0001249
- Motor stereotypyHP:0000733
- NystagmusHP:0000639
- Poor visual behavior for ageHP:0025152
- Reduced eye contactHP:0000817
- Repetitive compulsive behaviorHP:0008762
- Sleep disturbanceHP:0002360
- StrabismusHP:0000486
- VomitingHP:0002013
Occasional (29-5%)(42)
- 2-3 toe syndactylyHP:0004691
- Abnormal location of the eyebrowHP:0040296
- AgitationHP:0000713
- Almond-shaped palpebral fissureHP:0007874
- AnxietyHP:0000739
- AtaxiaHP:0001251
- Athetoid cerebral palsyHP:0011445
- Atrial septal defectHP:0001631
- Bilateral talipes equinovarusHP:0001776
- BrachyturricephalyHP:0000244
- Central apneaHP:0002871
- ChoreaHP:0002072
- ChoreoathetosisHP:0001266
- Delayed myelinationHP:0012448
- Dermoid cystHP:0025247
- DystoniaHP:0001332
- EEG with focal sharp wavesHP:0011196
- EEG with series of focal spikesHP:0011194
- EEG with spike-wave complexesHP:0010850
- EpicanthusHP:0000286
- Equinus calcaneusHP:0008138
- Feeding difficultiesHP:0011968
- HemiballismusHP:0100248
- Horizontal eyebrowHP:0011228
- HypermetropiaHP:0000540
- HyperventilationHP:0002883
- Intermittent hyperventilationHP:0004879
- Joint hypermobilityHP:0001382
- LaryngomalaciaHP:0001601
- Lumbar hyperlordosisHP:0002938
- Pes valgusHP:0008081
- Poor speechHP:0002465
- Progressive flexion contracturesHP:0005876
- Prominent nasal tipHP:0005274
- ScoliosisHP:0002650
- Self-bitingHP:0012169
- Self-mutilationHP:0000742
- Short noseHP:0003196
- Sleep apneaHP:0010535
- Smooth philtrumHP:0000319
- Thin upper lip vermilionHP:0000219
- Widow's peakHP:0000349