Orphanet: Early onset progressive leukoencephalopathy central nervous system calcification deafness visual impairment syndrome

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Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Disease definition

A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis.

ORPHA:3240

Classification level: Disorder

Synonym(s):
- Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: No data available
ICD-10: G93.8
ICD-11: LD2H.Y
OMIM: -
UMLS: C4512024
MeSH: -
GARD: -
MedDRA: -

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Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

ORPHA:3240

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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