Leukodystrophy, Progressive, Early Childhood-onset; Pldeco

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 PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2 EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4