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Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
ORPHA:457351 · Malformation syndrome · Disorder
HPO 表現型（共 50 項）
Very frequent (99-80%)(5)
- EEG abnormalityHP:0002353
- Global developmental delayHP:0001263
- MicrocephalyHP:0000252
- Sensorineural hearing impairmentHP:0000407
- Visual impairmentHP:0000505
Frequent (79-30%)(17)
- Abnormal brain morphologyHP:0012443
- Absent speechHP:0001344
- Autistic behaviorHP:0000729
- Bilateral tonic-clonic seizureHP:0002069
- Cerebral hypomyelinationHP:0006808
- Cerebral visual impairmentHP:0100704
- Floppy infantHP:0008947
- Generalized myoclonic seizureHP:0002123
- Generalized non-motor (absence) seizureHP:0002121
- Inability to walkHP:0002540
- Moderate intellectual disabilityHP:0002342
- Reduced eye contactHP:0000817
- SeizureHP:0001250
- Severe expressive language delayHP:0006863
- Severe intellectual disabilityHP:0010864
- Severe receptive language delayHP:0011352
- SpasticityHP:0001257
Occasional (29-5%)(20)
- Brain atrophyHP:0012444
- Broad eyebrowHP:0011229
- Cerebral cortical atrophyHP:0002120
- ConstipationHP:0002019
- Depressed nasal bridgeHP:0005280
- EEG with frontal sharp slow wavesHP:0011290
- Global brain atrophyHP:0002283
- High nonceruloplasmin-bound serum copperHP:0010838
- Highly arched eyebrowHP:0002553
- Hypoplasia of the corpus callosumHP:0002079
- HypsarrhythmiaHP:0002521
- ImmunodeficiencyHP:0002721
- Infantile spasmsHP:0012469
- Limb hypertoniaHP:0002509
- Long noseHP:0003189
- Neonatal hypotoniaHP:0001319
- Primary microcephalyHP:0011451
- RetrognathiaHP:0000278
- ThrombocytopeniaHP:0001873
- Underdeveloped nasal alaeHP:0000430
Very rare (<4-1%)(8)
- Atrial septal defectHP:0001631
- ExodeviationHP:0020049
- Gastrostomy tube feeding in infancyHP:0011471
- Limb dystoniaHP:0002451
- Motor stereotypyHP:0000733
- Sacral hypertrichosisHP:0004532
- ScoliosisHP:0002650
- Self-injurious behaviorHP:0100716