MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs: MLC2B
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613926
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000256) Macrocephaly 298 / 7739
2
(HPO:0001249) Intellectual disability 40 % [HPO:skoehler] 1089 / 7739
3
(HPO:0002312) Clumsiness 28 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0010547) Muscle flaccidity 466 / 7739
6
(HPO:0001252) Muscular hypotonia 990 / 7739
7
(HPO:0001324) Muscle weakness 859 / 7739
8
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
9
(HPO:0007341) Diffuse swelling of cerebral white matter 5 / 7739
10
(OMIM) Cavum Vergae 4 / 7739
11
(OMIM) Subcortical cysts temporal lobe 1 / 7739
12
(OMIM) Diffuse white matter abnormalities seen on brain MRI 1 / 7739
13
(OMIM) Cavum septi pellucidi 3 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but ...
Clinical Description OMIM Lopez-Hernandez et al. (2011) reported 18 patients from 16 families with the remitting MLC2B phenotype. All developed macrocephaly within the first year of life; 2 showed subsequent normalization of head circumference. Most patients had delayed early motor and ...
Molecular genetics OMIM In 18 patients from 16 families with remitting MLC2B, Lopez-Hernandez et al. (2011) identified a heterozygous mutation in the HEPACAM gene (see, e.g., 611642.0006-611642.0008). All the mutations were located in a putative extracellular interface of the first immunoglobulin ...