Intellectual Developmental Disorder Autosomal Recessive 75 With Neuropsychiatric Features And Variant Lissencephaly C5676961
An X-linked condition causing below-average cognitive ability alongside insufficient hormone production by the pituitary gland. This affects growth, metabolism, and development. Hormone replacement therapy and developmental support form the basis of care.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurologic)Autistic features
(neurologic)Cortical visual impairment
(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
Anticonvulsant therapy
Seizure management using appropriate anticonvulsant medications based on seizure type. EEG monitoring helps guide medication selection and assess treatment response.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental therapy program
Early intervention physical and occupational therapy to address motor delays, muscle tone abnormalities, and promote functional development within individual capability.
Additional treatment options
Behavioral and developmental interventions
Structured behavioral approaches and developmental support targeting communication, social skills, and adaptive functioning. May include applied behavior analysis principles.
psychologicalNeurodevelopmental and seizure surveillance
Regular assessment of developmental progress, cognitive function, and seizure control with periodic neuroimaging to monitor for structural changes.
monitoringSupportive care and family education
Comprehensive family education regarding condition management, prognosis, and access to support services. Genetic counseling for family planning and recurrence risk discussion.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Intellectual Developmental Disorder Autosomal Recessive 75 With Neuropsychiatric Features And Variant Lissencephaly C5676961?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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 26, 2026. · Read our editorial policy