Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
- Synonyms
- MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Rogier Min
- Truus EM Abbink
- Marjo S van der Knaap
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Clumsiness
Clumsiness
- MedGen UID: 66690
- Concept ID: C0233844
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Diffuse swelling of cerebral white matter
Diffuse swelling of cerebral white matter
- MedGen UID: 347007
- Concept ID: C1858855
- Finding: Finding
Abnormality of the nervous system
- Diffuse white matter abnormalities
Diffuse white matter abnormalities
- MedGen UID: 870477
- Concept ID: C4024923
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Megalencephaly
Megalencephaly
- MedGen UID: 65141
- Concept ID: C0221355
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Absent speech
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