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Microcephaly-microcornea syndrome, Seemanova type
ORPHA:2528 · Malformation syndrome · Disorder
HPO 表現型(共 15 項)
Very frequent (99-80%)(15)
- BrachycephalyHP:0000248
- CataractHP:0000518
- EpicanthusHP:0000286
- Growth delayHP:0001510
- High palateHP:0000218
- HypogonadismHP:0000135
- MicrocephalyHP:0000252
- MicrocorneaHP:0000482
- MicrophthalmiaHP:0000568
- Narrow mouthHP:0000160
- Progressive spasticityHP:0002191
- RetrognathiaHP:0000278
- Severe intellectual disabilityHP:0010864
- Short statureHP:0004322
- Upslanted palpebral fissureHP:0000582