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Craniotelencephalic dysplasia
ORPHA:1528 · Malformation syndrome · Disorder
HPO 表現型（共 15 項）
Very frequent (99-80%)(3)
- CraniosynostosisHP:0001363
- Frontal bossingHP:0002007
- Global developmental delayHP:0001263
Frequent (79-30%)(12)
- Agenesis of corpus callosumHP:0001274
- ArrhinencephalyHP:0002139
- Cerebellar hypoplasiaHP:0001321
- Frontoethmoidal encephaloceleHP:0007330
- HydrocephalusHP:0000238
- LissencephalyHP:0001339
- MicrocephalyHP:0000252
- MicrophthalmiaHP:0000568
- Optic atrophyHP:0000648
- Posteriorly rotated earsHP:0000358
- Septo-optic dysplasiaHP:0100842
- Visual impairmentHP:0000505