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

A genetic condition that affects brain development, causing a smaller head size, learning challenges, and sometimes seizures.

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

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations is a rare genetic condition that affects how the brain develops.

People with this condition have a head that is much smaller than average (microcephaly). They have intellectual disability that shows up at birth or soon after. Some also have changes in the outer layer of the brain (cortical malformations), which affect thinking, planning, and complex behaviors. Most have delayed development, behavior concerns, and seizures.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

Smaller-than-average head size (microcephaly)
Delayed speech and language development
Severe intellectual disability
Delays in reaching developmental milestones
Simpler folds on the brain surface (simplified gyral pattern)
Sloping forehead

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team: A doctor familiar with rare conditions, plus specialists as needed
Expert care: Ask about multidisciplinary care centers for rare conditions
Treatment: GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research: Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

Connect with Child Neurology Foundation
Keep notes on symptoms, changes and questions for appointments
Ask about patient registries that help research
Look into financial aid and travel resources for care visits

Bring these questions to your next doctor visit

Can genetic testing for the WDR62 gene confirm this diagnosis?

Which specialists should be part of my child's care team?

What can we do to support speech and development, and how are seizures watched for?

Quick facts

InheritanceAutosomal Recessive

This condition is caused by changes in the WDR62 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.

Also known as: microcephaly 2, primary, autosomal recessive, with cortical malformations

Patient organizations

Child Neurology FoundationMicrocephaly 2, primary, autosomal recessive, with or without cortical malformations · United States

Source: NIH GARD · Microcephaly 2, primary, autosomal recessive, with or without cortical malformationsGARD ID 15366 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.

Explore the Microcephaly 2, primary, autosomal recessive, with or without cortical malformations blog

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Explore research for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Explore actively recruiting Microcephaly 2, primary, autosomal recessive, with or without cortical malformations studies with HealthSpark.

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