Living with Intellectual disability-epilepsy-extrapyramidal syndrome
A genetic condition (DEAF1-related) with intellectual disability, speech problems, delayed movement skills, and often seizures.
Understanding Intellectual disability-epilepsy-extrapyramidal syndrome
Other features can include seizures, brain differences, behavior problems, autism, stomach and bowel problems, and skeletal problems such as flat feet or hip dislocation. Some features resemble Smith-Magenis syndrome. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Speech problems
- Delayed movement skills
- Small head (microcephaly)
- Autism
- Constipation
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DEAF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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 Simons Searchlight
- 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
Quick facts
Changes (pathogenic variants) in the DEAF1 gene cause this condition. GARD lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dyskinesia, seizures, and intellectual developmental disorder; nedhels; neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
Patient organizations
- Simons SearchlightIntellectual disability-epilepsy-extrapyramidal syndrome · United States
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