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19p13.13 microdeletion syndrome
ORPHA:357001 · Malformation syndrome · Disorder
HPO 表現型（共 47 項）
Very frequent (99-80%)(3)
- Abnormal facial shapeHP:0001999
- MacrocephalyHP:0000256
- Prominent foreheadHP:0011220
Frequent (79-30%)(9)
- Anteverted naresHP:0000463
- Attention deficit hyperactivity disorderHP:0007018
- Downslanted palpebral fissuresHP:0000494
- Functional abnormality of the gastrointestinal tractHP:0012719
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- Long faceHP:0000276
- Pectus excavatumHP:0000767
- StrabismusHP:0000486
Occasional (29-5%)(35)
- Abdominal painHP:0002027
- BrachycephalyHP:0000248
- Cafe-au-lait spotHP:0000957
- Chiari type I malformationHP:0007099
- ClinodactylyHP:0030084
- Corpus callosum atrophyHP:0007371
- Deep plantar creasesHP:0001869
- Deeply set eyeHP:0000490
- Depressed nasal bridgeHP:0005280
- DiarrheaHP:0002014
- DolichocephalyHP:0000268
- EpicanthusHP:0000286
- Feeding difficultiesHP:0011968
- High palateHP:0000218
- HypertelorismHP:0000316
- Hypoplasia of the frontal lobesHP:0007333
- Increased nuchal translucencyHP:0010880
- Long eyelashesHP:0000527
- Long fingersHP:0100807
- Low-set earsHP:0000369
- MacroglossiaHP:0000158
- MacrotiaHP:0000400
- Malar flatteningHP:0000272
- Narrow mouthHP:0000160
- NystagmusHP:0000639
- Optic atrophyHP:0000648
- Optic nerve hypoplasiaHP:0000609
- Pes planusHP:0001763
- Sandal gapHP:0001852
- SeizureHP:0001250
- Short noseHP:0003196
- Smooth philtrumHP:0000319
- SyringomyeliaHP:0003396
- Thin upper lip vermilionHP:0000219
- VomitingHP:0002013