Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
22q13.33
Megalencephalic Leukoencephalopathy with Subcortical Cysts is a rare form of leukoedystrophy characterized by infantile-onset macrocephaly and delayed onset neurological deterioration. The white matter is diffusely abnromal, swollen and vacuolated.
Type 1 Megalencephalic Leukoencephalopathy with Subcortical Cysts is caused by mutations in the MLC1 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604004.1.1 | Lebanon | Male | Yes | Yes | Macrocephaly; Ataxia; Seizure; Macrocephaly; Ataxia; Seizure;  | NM_015166.3:c.263G>T | Homozygous | Autosomal, Recessive | Koussa et al, 2005 | |
| 604004.1.2 | Lebanon | Male | Yes | Yes | Macrocephaly; Ataxia; Seizure; Macrocephaly; Ataxia; Seizure; | NM_015166.3:c.263G>T | Homozygous | Autosomal, Recessive | Koussa et al, 2005 | Sibling of 604004.1.... |