X Linked Lissencephaly With Abnormal Genitalia C1846171
A rare genetic condition causing abnormal brain development and genital differences, primarily in males. Leads to severe developmental delays and requires multidisciplinary care throughout life.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Seizures
(neurologic)Severe intellectual disability
(neurologic)Ambiguous genitalia
(neurologic)Hydrocephalus
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Antiepileptic medication management
Seizure control through appropriate antiepileptic medications tailored to seizure type, which is essential given the high prevalence of epilepsy in lissencephaly.
Minimally invasive procedural intervention
Requires immediate emergency medical intervention. Do not delay treatment.
Genital anomaly correction
Surgical intervention to correct anatomical abnormalities of the genitalia, timing determined by specific diagnosis and severity.
Additional treatment options
Neurodevelopmental therapy program
Comprehensive physical, occupational, and speech therapy program addressing motor delays, feeding difficulties, and developmental progress.
physical_therapyFamily counseling and genetic counseling
Psychological support for families along with genetic counseling to explain inheritance patterns, recurrence risks, and prenatal testing options.
psychologicalMultisystem monitoring protocol
Regular assessment of growth, endocrine function, neurological status, and feeding to manage complications associated with lissencephaly.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is X Linked Lissencephaly With Abnormal Genitalia C1846171?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2013.
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Scheffer IE. A developmental and genetic classification for malformations of cortical development. Neurology. 2012.
Matsumoto N, Leventer RJ, Kuc JA, Mewasingh LD, Aicardi J, Pilz DT. Mutation analysis and genotype-phenotype correlation of 29 unrelated patients with lissencephaly. Hum Genet. 2011.
Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 2013.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy