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Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
ORPHA:476126 · Malformation syndrome · Disorder
HPO 表現型（共 55 項）
Very frequent (99-80%)(3)
- Global developmental delayHP:0001263
- Mild intellectual disabilityHP:0001256
- Poor speechHP:0002465
Frequent (79-30%)(14)
- 2-3 toe syndactylyHP:0004691
- Abnormality of the dentitionHP:0000164
- Atypical behaviorHP:0000708
- Autistic behaviorHP:0000729
- Dental crowdingHP:0000678
- Facial asymmetryHP:0000324
- Feeding difficulties in infancyHP:0008872
- High foreheadHP:0000348
- MicrognathiaHP:0000347
- Primary microcephalyHP:0011451
- Recurrent infectionsHP:0002719
- ScoliosisHP:0002650
- SynophrysHP:0000664
- Tapered fingerHP:0001182
Occasional (29-5%)(38)
- Abnormality of the handHP:0001155
- Absent speechHP:0001344
- Aggressive behaviorHP:0000718
- AmblyopiaHP:0000646
- Aplasia of the 1st metacarpalHP:0010035
- Attention deficit hyperactivity disorderHP:0007018
- Borderline intellectual disabilityHP:0006889
- Chronic constipationHP:0012450
- Clinodactyly of the 5th fingerHP:0004209
- Complete atrioventricular canal defectHP:0001674
- Compulsive behaviorsHP:0000722
- Congenital ptosisHP:0007970
- EpicanthusHP:0000286
- Eruption failureHP:0000706
- Failure to thriveHP:0001508
- Gait ataxiaHP:0002066
- Gastrostomy tube feeding in infancyHP:0011471
- High palateHP:0000218
- HypercalcemiaHP:0003072
- KyphosisHP:0002808
- Long philtrumHP:0000343
- Motor stereotypyHP:0000733
- Partial absence of thumbHP:0009659
- Pectus excavatumHP:0000767
- Pes planusHP:0001763
- Poor suckHP:0002033
- Secondary microcephalyHP:0005484
- SeizureHP:0001250
- Self-mutilationHP:0000742
- Short noseHP:0003196
- Short palmHP:0004279
- Slanting of the palpebral fissureHP:0200006
- Sleep disturbanceHP:0002360
- Specific learning disabilityHP:0001328
- StrabismusHP:0000486
- TremorHP:0001337
- Unilateral radial aplasiaHP:0011908
- Urinary incontinenceHP:0000020