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Phelan-McDermid syndrome
ORPHA:48652 · Malformation syndrome · Disorder
HPO 表現型（共 51 項）
Very frequent (99-80%)(7)
- Accelerated skeletal maturationHP:0005616
- BruxismHP:0003763
- Delayed speech and language developmentHP:0000750
- Hypoplastic toenailsHP:0001800
- Impaired pain sensationHP:0007328
- MacrotiaHP:0000400
- Neonatal hypotoniaHP:0001319
Frequent (79-30%)(19)
- Autistic behaviorHP:0000729
- Bulbous noseHP:0000414
- Deeply set eyeHP:0000490
- DolichocephalyHP:0000268
- Feeding difficultiesHP:0011968
- Full cheeksHP:0000293
- HyperactivityHP:0000752
- HypohidrosisHP:0000966
- ImmunodeficiencyHP:0002721
- Large handsHP:0001176
- Long eyelashesHP:0000527
- Malar flatteningHP:0000272
- Palpebral edemaHP:0100540
- Pointed chinHP:0000307
- PtosisHP:0000508
- Sacral dimpleHP:0000960
- Sleep disturbanceHP:0002360
- Thick eyebrowHP:0000574
- Wide nasal bridgeHP:0000431
Occasional (29-5%)(25)
- Agenesis of corpus callosumHP:0001274
- Arachnoid cystHP:0100702
- Cerebellar cortical atrophyHP:0008278
- Clinodactyly of the 5th fingerHP:0004209
- Dental crowdingHP:0000678
- Dental malocclusionHP:0000689
- EpicanthusHP:0000286
- Gastroesophageal refluxHP:0002020
- Global developmental delayHP:0001263
- Hair-pullingHP:0012167
- Hearing impairmentHP:0000365
- HydronephrosisHP:0000126
- HypermetropiaHP:0000540
- Intellectual disabilityHP:0001249
- LymphedemaHP:0001004
- MacrocephalyHP:0000256
- Nausea and vomitingHP:0002017
- ObesityHP:0001513
- Recurrent pyelonephritisHP:0012787
- Recurrent skin infectionsHP:0001581
- Renal dysplasiaHP:0000110
- SeizureHP:0001250
- StrabismusHP:0000486
- Umbilical herniaHP:0001537
- Vesicoureteral refluxHP:0000076