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GTR Home > Conditions/Phenotypes > Microcephaly 5, primary, autosomal recessive

Microcephaly 5, primary, autosomal recessive

Synonyms
ASPM Primary Microcephaly

Summary

Excerpted from the GeneReview: ASPM Primary Microcephaly
ASPM primary microcephaly (ASPM-MCPH) is characterized by: (1) significant microcephaly (>3 standard deviations [SD] below the mean for age) usually present at birth and always present before age one year and (2) the absence of other congenital anomalies. While developmental milestones are usually normal in young children, older children have variable levels of intellectual disability. Neurologic examination is usually normal except for mild spasticity. Seizures are not common.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Alain Verloes
Séverine Drunat
Sandrine Passemard
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Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASP, Calmbp1, MCPH5, ASPM
    Summary: assembly factor for spindle microtubules

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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