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ALG12-CDG
ORPHA:79324 · Disease · Disorder
HPO 表現型（共 93 項）
Obligate (100%)(1)
- Abnormal circulating enzyme concentration or activityHP:0012379
Very frequent (99-80%)(2)
- Abnormality of the coagulation cascadeHP:0003256
- Abnormality of the genitourinary systemHP:0000119
Frequent (79-30%)(22)
- Abnormal circulating IgG concentrationHP:0410242
- Abnormal peripheral nervous system morphologyHP:0000759
- Chronic rhinitisHP:0002257
- Decreased total B cell countHP:0010976
- Delayed gross motor developmentHP:0002194
- Delayed speech and language developmentHP:0000750
- Failure to thriveHP:0001508
- Feeding difficultiesHP:0011968
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- Morphological central nervous system abnormalityHP:0002011
- Progressive microcephalyHP:0000253
- Prolonged partial thromboplastin timeHP:0003645
- Prolonged prothrombin timeHP:0008151
- Recurrent ear infectionsHP:0410018
- Recurrent pharyngitisHP:0100776
- Recurrent pneumoniaHP:0006532
- Recurrent respiratory infectionsHP:0002205
- Reduced antithrombin antigenHP:0040246
- Reduced factor XI activityHP:0001929
- Reduced protein C activityHP:0005543
- Reduced protein S activityHP:0004855
Occasional (29-5%)(57)
- Abnormal bone ossificationHP:0011849
- Abnormal circulating IgA concentrationHP:0410240
- Abnormal circulating IgM concentrationHP:0410243
- Abnormal facial shapeHP:0001999
- Abnormal pinna morphologyHP:0000377
- Abnormality of the eyeHP:0000478
- Brain imaging abnormalityHP:0410263
- CamptodactylyHP:0012385
- Cavum septum pellucidumHP:0002389
- Cerebellar hypoplasiaHP:0001321
- Clinodactyly of the 5th fingerHP:0004209
- Complete or near-complete absence of specific antibody response to tetanus vaccineHP:0410295
- CryptorchidismHP:0000028
- Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
- Delayed myelinationHP:0012448
- Elevated circulating hepatic transaminase concentrationHP:0002910
- EpicanthusHP:0000286
- Gastroesophageal refluxHP:0002020
- Gastrostomy tube feeding in infancyHP:0011471
- Generalized hypotoniaHP:0001290
- HypoalbuminemiaHP:0003073
- HypocholesterolemiaHP:0003146
- Hypoplasia of the corpus callosumHP:0002079
- HypospadiasHP:0000047
- Intrauterine growth retardationHP:0001511
- Long faceHP:0000276
- Long fingersHP:0100807
- Low posterior hairlineHP:0002162
- MicrognathiaHP:0000347
- MicropenisHP:0000054
- Midface retrusionHP:0011800
- Overlapping fingersHP:0010557
- PachygyriaHP:0001302
- Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccineHP:0410305
- Posterior plagiocephalyHP:0011327
- Premature birthHP:0001622
- Prominent nasal bridgeHP:0000426
- Proximal placement of thumbHP:0009623
- Recurrent hypoglycemiaHP:0001988
- Redundant skinHP:0001582
- Retinal detachmentHP:0000541
- Sandal gapHP:0001852
- ScoliosisHP:0002650
- SeizureHP:0001250
- Sensorineural hearing impairmentHP:0000407
- Severe global developmental delayHP:0011344
- Short long boneHP:0003026
- Short philtrumHP:0000322
- Small nailHP:0001792
- StrabismusHP:0000486
- Talipes equinovarusHP:0001762
- Thin upper lip vermilionHP:0000219
- ThrombocytopeniaHP:0001873
- Ulnar deviation of the wristHP:0003049
- VentriculomegalyHP:0002119
- Wide noseHP:0000445
- Widened cerebral subarachnoid spaceHP:0012766
Very rare (<4-1%)(11)
- Abnormal adipose tissue morphologyHP:0009124
- Biventricular hypertrophyHP:0200128
- EdemaHP:0000969
- HyponatremiaHP:0002902
- Intestinal malrotationHP:0002566
- Inverted nipplesHP:0003186
- Muscular ventricular septal defectHP:0011623
- Patent ductus arteriosusHP:0001643
- Patent foramen ovaleHP:0001655
- PolyhydramniosHP:0001561
- SepsisHP:0100806