Neurodegeneration and seizures due to copper transport defect
Summary
Clinical features
Help- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Limb hypertonia
Limb hypertonia
- MedGen UID: 333083
- Concept ID: C1838391
- Finding: Finding
Abnormality of limbs
- Short femur
Short femur
- MedGen UID: 87499
- Concept ID: C0345375
- Finding: Congenital Abnormality
Abnormality of limbs
- Short tibia
Short tibia
- MedGen UID: 338005
- Concept ID: C1850259
- Finding: Finding
Abnormality of limbs
- Clubfoot
- Abnormality of metabolism/homeostasis
- Abnormal circulating ceruloplasmin concentration
Abnormal circulating ceruloplasmin concentration
- MedGen UID: 1726009
- Concept ID: C5421638
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal circulating copper concentration
Abnormal circulating copper concentration
- MedGen UID: 892610
- Concept ID: C4023689
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Temperature instability
Temperature instability
- MedGen UID: 329973
- Concept ID: C1820737
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal circulating ceruloplasmin concentration
- Abnormality of prenatal development or birth
- Thickened nuchal skin fold
Thickened nuchal skin fold
- MedGen UID: 324644
- Concept ID: C1836940
- Finding: Finding
Abnormality of prenatal development or birth
- Thickened nuchal skin fold
- Abnormality of the cardiovascular system
- Cardiomegaly
Cardiomegaly
- MedGen UID: 5459
- Concept ID: C0018800
- Finding: Finding
Abnormality of the cardiovascular system
- Tricuspid regurgitation
Tricuspid regurgitation
- MedGen UID: 11911
- Concept ID: C0040961
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomegaly
- Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Cerebral visual impairment
- Abnormality of the genitourinary system
- Glandular hypospadias
Glandular hypospadias
- MedGen UID: 452551
- Concept ID: C0452168
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Glandular hypospadias
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Enlarged cisterna magna
Enlarged cisterna magna
- MedGen UID: 344031
- Concept ID: C1853377
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Decreased CSF copper concentration
Decreased CSF copper concentration
- MedGen UID: 1842043
- Concept ID: C5826684
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to roll over
Delayed ability to roll over
- MedGen UID: 1718874
- Concept ID: C5397980
- Finding: Finding
Abnormality of the nervous system
- Focal impaired awareness seizure
Focal impaired awareness seizure
- MedGen UID: 543022
- Concept ID: C0270834
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Increased CSF lactate
Increased CSF lactate
- MedGen UID: 257904
- Concept ID: C1167918
- Finding: Finding
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Persistent head lag
Persistent head lag
- MedGen UID: 256151
- Concept ID: C1141883
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cerebellar atrophy
- Abnormality of the respiratory system
- Pneumothorax
Pneumothorax
- MedGen UID: 19365
- Concept ID: C0032326
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Pneumothorax
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