← 返回搜尋
Infantile multisystem neurologic-endocrine-pancreatic disease
ORPHA:456312 · Disease · Disorder
HPO 表現型（共 48 項）
Very frequent (99-80%)(8)
- Abnormal facial shapeHP:0001999
- AtaxiaHP:0001251
- Distal amyotrophyHP:0003693
- Exocrine pancreatic insufficiencyHP:0001738
- Global developmental delayHP:0001263
- Moderate intellectual disabilityHP:0002342
- Motor delayHP:0001270
- Sensorineural hearing impairmentHP:0000407
Frequent (79-30%)(19)
- Abnormal foot morphologyHP:0001760
- Abnormal midface morphologyHP:0000309
- Abnormality of the handHP:0001155
- Achilles tendon contractureHP:0001771
- BrachycephalyHP:0000248
- Cerebellar hemisphere hypoplasiaHP:0100307
- Diabetes mellitusHP:0000819
- Distal muscle weaknessHP:0002460
- DysmetriaHP:0001310
- EEG abnormalityHP:0002353
- ExotropiaHP:0000577
- Facial palsyHP:0010628
- Failure to thriveHP:0001508
- Long fingersHP:0100807
- Mild postnatal growth retardationHP:0001530
- Neonatal hypotoniaHP:0001319
- Proximal placement of thumbHP:0009623
- Secondary microcephalyHP:0005484
- Thin upper lip vermilionHP:0000219
Occasional (29-5%)(21)
- Abnormal hallux morphologyHP:0001844
- Abnormal liver parenchyma morphologyHP:0030146
- Aplasia/Hypoplasia of the pancreasHP:0100800
- Congenital hip dislocationHP:0001374
- Decreased fetal movementHP:0001558
- Decreased motor nerve conduction velocityHP:0003431
- Decreased sensory nerve conduction velocityHP:0003448
- Delayed pubertyHP:0000823
- Foot joint contractureHP:0008366
- Generalized myoclonic seizureHP:0002123
- HepatomegalyHP:0002240
- Hyperechogenic pancreasHP:0006276
- HypertelorismHP:0000316
- HypothyroidismHP:0000821
- HypoxemiaHP:0012418
- Joint contracture of the handHP:0009473
- Shawl scrotumHP:0000049
- Skeletal muscle fibrosisHP:0030951
- Talipes equinovalgusHP:0001772
- Ulnar deviation of the 2nd fingerHP:0009464
- Ulnar deviation of the 3rd fingerHP:0009463