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.
Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2; ADSD2 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL