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GTR Home > Conditions/Phenotypes > Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Synonyms
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS; Primary autosomal recessive microcephaly 2

Summary

Excerpted from the GeneReview: WDR62 Primary Microcephaly
In WDR62 primary microcephaly (WDR62-MCPH), microcephaly (occipitofrontal circumference [OFC] ≥2 standard deviations below the mean) is usually present at birth, but in some instances becomes evident later in the first year of life. Growth is otherwise normal. Except for brain malformations in most affected individuals, no other congenital malformations are observed. Central nervous system involvement can include delayed motor development, mild-to-severe intellectual disability (ID), behavior problems, epilepsy, spasticity, and ataxia.
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
Lyse Ruaud
Séverine Drunat
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Available tests

46 tests are in the database for this condition.

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Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C19orf14, MCPH2, WDR62
    Summary: WD repeat domain 62

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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