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Laminin subunit alpha 2-related congenital muscular dystrophy
ORPHA:258 · Malformation syndrome · Disorder
HPO 表現型（共 53 項）
Very frequent (99-80%)(15)
- Abnormality of metabolism/homeostasisHP:0001939
- Absent muscle fiber merosinHP:0030091
- Gastroesophageal refluxHP:0002020
- Highly elevated creatine kinaseHP:0030234
- HypokinesiaHP:0002375
- HypotoniaHP:0001252
- Inability to walkHP:0002540
- Increased connective tissueHP:0009025
- Motor delayHP:0001270
- Muscle fiber atrophyHP:0100295
- Muscle weaknessHP:0001324
- Muscular dystrophyHP:0003560
- MyositisHP:0100614
- Respiratory failureHP:0002878
- Weak cryHP:0001612
Frequent (79-30%)(13)
- Abnormal brainstem MRI signal intensityHP:0012747
- Abnormality of the temporomandibular jointHP:0010754
- AspirationHP:0002835
- AstrocytosisHP:0002446
- Cerebral edemaHP:0002181
- EMG abnormalityHP:0003457
- Facial palsyHP:0010628
- Flexion contractureHP:0001371
- Impaired masticationHP:0005216
- Intellectual disabilityHP:0001249
- MacroglossiaHP:0000158
- Recurrent lower respiratory tract infectionsHP:0002783
- SeizureHP:0001250
Occasional (29-5%)(23)
- Abnormality of visual evoked potentialsHP:0000649
- ArrhythmiaHP:0011675
- AtelectasisHP:0100750
- CardiomyopathyHP:0001638
- Cognitive impairmentHP:0100543
- Decreased body weightHP:0004325
- Diminished deep tendon reflexHP:0001315
- DysphagiaHP:0002015
- Focal-onset seizureHP:0007359
- Generalized non-motor (absence) seizureHP:0002121
- HyperlordosisHP:0003307
- HypoventilationHP:0002791
- Intercostal muscle weaknessHP:0004878
- LissencephalyHP:0001339
- Myopathic faciesHP:0002058
- Neonatal hypotoniaHP:0001319
- Open mouthHP:0000194
- PachygyriaHP:0001302
- Pontocerebellar atrophyHP:0006879
- Protruding tongueHP:0010808
- Reduced left ventricular ejection fractionHP:0012664
- ScoliosisHP:0002650
- Sensorimotor neuropathyHP:0007141
Very rare (<4-1%)(2)
- Pulmonary arterial hypertensionHP:0002092
- Respiratory insufficiencyHP:0002093