U.S. flag

An official website of the United States government


Send to:

Choose Destination

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Early-onset calcifying leukoencephalopathy, skeletal dysplasia; early-onset calcifying leukoencephalopathy-skeletal dysplasia
SNOMED CT: Early-onset calcifying leukoencephalopathy, skeletal dysplasia (1222661007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0034143
Orphanet: ORPHA556985


A rare genetic neurological disorder characterised by paediatric onset of calcifying leucoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modelling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly-onset calcifying leukoencephalopathy-skeletal dysplasia

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...