← 返回搜尋
Micro syndrome
ORPHA:2510 · Malformation syndrome · Disorder
HPO 表現型（共 42 項）
Very frequent (99-80%)(22)
- Anteverted naresHP:0000463
- Aplasia/Hypoplasia of the corpus callosumHP:0007370
- CataractHP:0000518
- Cerebral visual impairmentHP:0100704
- CryptorchidismHP:0000028
- Delayed pubertyHP:0000823
- Global developmental delayHP:0001263
- High palateHP:0000218
- HypotoniaHP:0001252
- Joint stiffnessHP:0001387
- LissencephalyHP:0001339
- MicrocephalyHP:0000252
- MicrocorneaHP:0000482
- MicrophthalmiaHP:0000568
- Optic atrophyHP:0000648
- PachygyriaHP:0001302
- Severe intellectual disabilityHP:0010864
- Short noseHP:0003196
- Short philtrumHP:0000322
- Short statureHP:0004322
- SpasticityHP:0001257
- Wide nasal bridgeHP:0000431
Frequent (79-30%)(13)
- Abnormal retinal pigmentationHP:0007703
- Abnormality of visual evoked potentialsHP:0000649
- Cerebral cortical atrophyHP:0002120
- Clitoral hypoplasiaHP:0000060
- Generalized hirsutismHP:0002230
- Hypoplasia of penisHP:0008736
- Hypoplastic labia minoraHP:0000064
- Intrauterine growth retardationHP:0001511
- KyphosisHP:0002808
- MacrotiaHP:0000400
- MicrognathiaHP:0000347
- Posteriorly rotated earsHP:0000358
- ScoliosisHP:0002650
Occasional (29-5%)(7)
- Abnormal cerebellum morphologyHP:0001317
- Abnormal localization of kidneyHP:0100542
- Cerebellar vermis hypoplasiaHP:0001320
- HydronephrosisHP:0000126
- Peripheral neuropathyHP:0009830
- Retinal colobomaHP:0000480
- SeizureHP:0001250