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Microcephaly - seizures - developmental delay

Orpha number ORPHA228418
Synonym(s) MCSZ
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity.

Less than 15 cases have been reported in 7 families.

Mutations in PNKP (polynucleotide kinase 3'- phosphatase; 19q13.4) have been identified in all patients.

Brain magnetic resonance imaging (MRI) scans consistently show microcephaly without other structural abnormalities, and with no evidence of degeneration.

The condition is hereditary and is transmitted as an autosomal recessive trait.


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