Leukoencephalopathy, progressive, infantile-onset, with or without deafness
Summary
Available tests
Clinical tests (3 available)
Molecular Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain
- MedGen UID: 892840
- Concept ID: C4024609
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial respiratory chain
- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Hypochromic microcytic anemia
Hypochromic microcytic anemia
- MedGen UID: 124413
- Concept ID: C0271901
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Long philtrum
- Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
Hyper-beta-alaninemia
- MedGen UID: 75702
- Concept ID: C0268630
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased serum pyruvate
Increased serum pyruvate
- MedGen UID: 376596
- Concept ID: C1849488
- Finding: Finding
Abnormality of metabolism/homeostasis
- Ketosis
Ketosis
- MedGen UID: 7206
- Concept ID: C0022638
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
- Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Vomiting
- Abnormality of the ear
- Congenital sensorineural hearing impairment
Congenital sensorineural hearing impairment
- MedGen UID: 356101
- Concept ID: C1865866
- Finding: Disease or Syndrome
Abnormality of the ear
- Sensorineural hearing impairment
Sensorineural hearing impairment
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Abnormality of the ear
- Congenital sensorineural hearing impairment
- Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the genitourinary system
- Mild proteinuria
Mild proteinuria
- MedGen UID: 868438
- Concept ID: C4022832
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Mild proteinuria
- Abnormality of the musculoskeletal system
- Cerebral calcification
Cerebral calcification
- MedGen UID: 124360
- Concept ID: C0270685
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Cerebral calcification
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Akinesia
Akinesia
- MedGen UID: 43218
- Concept ID: C0085623
- Finding: Finding
Abnormality of the nervous system
- Decreased CSF biopterin level
Decreased CSF biopterin level
- MedGen UID: 892624
- Concept ID: C4073157
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized tonic seizure
Generalized tonic seizure
- MedGen UID: 322935
- Concept ID: C1836508
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Leukoencephalopathy
Leukoencephalopathy
- MedGen UID: 78722
- Concept ID: C0270612
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Severe global developmental delay
Severe global developmental delay
- MedGen UID: 332436
- Concept ID: C1837397
- Finding: Finding
Abnormality of the nervous system
- Spastic tetraplegia
Spastic tetraplegia
- MedGen UID: 98433
- Concept ID: C0426970
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Absent speech
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Failure to thrive
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