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1p36 deletion syndrome
ORPHA:1606 · Malformation syndrome · Disorder
HPO 表現型（共 99 項）
Very frequent (99-80%)(22)
- Abnormal speech patternHP:0002167
- Absent speechHP:0001344
- Agenesis of corpus callosumHP:0001274
- BrachydactylyHP:0001156
- Camptodactyly of fingerHP:0100490
- Cerebral cortical atrophyHP:0002120
- Deeply set eyeHP:0000490
- Delayed speech and language developmentHP:0000750
- EEG abnormalityHP:0002353
- Failure to thriveHP:0001508
- Gait disturbanceHP:0001288
- Global developmental delayHP:0001263
- Horizontal eyebrowHP:0011228
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- Long philtrumHP:0000343
- Midface retrusionHP:0011800
- Pointed chinHP:0000307
- Poor speechHP:0002465
- Short footHP:0001773
- VentriculomegalyHP:0002119
- Wide nasal bridgeHP:0000431
Frequent (79-30%)(23)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormal eyebrow morphologyHP:0000534
- Abnormality of visionHP:0000504
- Atypical behaviorHP:0000708
- AutismHP:0000717
- BrachycephalyHP:0000248
- Clinodactyly of the 5th fingerHP:0004209
- ConstipationHP:0002019
- Delayed cranial suture closureHP:0000270
- Depressed nasal bridgeHP:0005280
- Depressed nasal ridgeHP:0000457
- DysphagiaHP:0002015
- EpicanthusHP:0000286
- Feeding difficulties in infancyHP:0008872
- Gastroesophageal refluxHP:0002020
- High hypermetropiaHP:0008499
- MicrocephalyHP:0000252
- Motor stereotypyHP:0000733
- Narrow mouthHP:0000160
- Posteriorly rotated earsHP:0000358
- SeizureHP:0001250
- Self-injurious behaviorHP:0100716
- StrabismusHP:0000486
Occasional (29-5%)(54)
- 11 pairs of ribsHP:0000878
- Abnormal blistering of the skinHP:0008066
- Abnormal cardiac septum morphologyHP:0001671
- Abnormal female external genitalia morphologyHP:0000055
- Abnormal heart valve morphologyHP:0001654
- Abnormal intestine morphologyHP:0002242
- Abnormality of the anusHP:0004378
- Abnormality of the immune systemHP:0002715
- Abnormality of the kidneyHP:0000077
- Abnormality of the liverHP:0001392
- Abnormality of the neckHP:0000464
- Abnormality of the spleenHP:0001743
- Annular pancreasHP:0001734
- Aortic arch aneurysmHP:0005113
- Bifid ribsHP:0000892
- CataractHP:0000518
- Conductive hearing impairmentHP:0000405
- Cranial nerve paralysisHP:0006824
- CryptorchidismHP:0000028
- Dilated cardiomyopathyHP:0001644
- Foot polydactylyHP:0001829
- Frontal bossingHP:0002007
- Generalized hirsutismHP:0002230
- Hemiplegia/hemiparesisHP:0004374
- Hepatic steatosisHP:0001397
- Hip dysplasiaHP:0001385
- HydronephrosisHP:0000126
- HypogonadismHP:0000135
- Hypoplasia of penisHP:0008736
- HypospadiasHP:0000047
- HypothyroidismHP:0000821
- Joint stiffnessHP:0001387
- KyphosisHP:0002808
- Lower limb asymmetryHP:0100559
- MaculeHP:0012733
- MicrotiaHP:0008551
- MyopathyHP:0003198
- NeuroblastomaHP:0003006
- NystagmusHP:0000639
- ObesityHP:0001513
- Ocular albinismHP:0001107
- Optic atrophyHP:0000648
- Patent ductus arteriosusHP:0001643
- PolyphagiaHP:0002591
- Pyloric stenosisHP:0002021
- Renal cystHP:0000107
- Rib fusionHP:0000902
- ScoliosisHP:0002650
- Sensorineural hearing impairmentHP:0000407
- Short statureHP:0004322
- Spinal canal stenosisHP:0003416
- TelangiectasiaHP:0001009
- Tetralogy of FallotHP:0001636
- Visual impairmentHP:0000505