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FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
ORPHA:404451 · Malformation syndrome · Disorder
HPO 表現型（共 18 項）
Frequent (79-30%)(18)
- Cerebral cortical atrophyHP:0002120
- Choroidal neovascularizationHP:0011506
- Congenital bilateral hip dislocationHP:0008780
- CryptorchidismHP:0000028
- Delayed ability to walkHP:0031936
- Delayed speech and language developmentHP:0000750
- DroolingHP:0002307
- DysarthriaHP:0001260
- DystoniaHP:0001332
- Infantile spasmsHP:0012469
- Macular degenerationHP:0000608
- Moderate intellectual disabilityHP:0002342
- Motor delayHP:0001270
- Nonprogressive encephalopathyHP:0007030
- Pseudobulbar signsHP:0002200
- Spastic tetraparesisHP:0001285
- SyndactylyHP:0001159
- SyringomyeliaHP:0003396