1. Mendelian
  2. Rare Diseases
  3. LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO

Leukodystrophy, Progressive, Early Childhood-onset; Pldeco

Genes related to Leukodystrophy, Progressive, Early Childhood-onset; Pldeco

  • ACER3

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy, Progressive, Early Childhood-onset; Pldeco

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Spasticity
  • Flexion contracture
  • Macrocephaly
  • Hypoplasia of the corpus callosum
  • Dystonia
  • Cerebral atrophy
  • Areflexia
And another 13 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Not enough data available about incidence and published cases.


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Leukodystrophy, Progressive, Early Childhood-onset; Pldeco Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACER3.

By Fulgent Genetics Fulgent Genetics in United States.

ACER3
Specificity
100 %
Genes
100 %

Alternate names

Leukodystrophy, Progressive, Early Childhood-onset; Pldeco Is also known as ;acer3-related early childhood-onset progressive leukodystrophy; leukodystrophy due to alkaline ceramidase 3 deficiency.


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