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Congenital Conditions

MED13L syndrome

Serious ICD-10: Q87 · NIH NLM
हिंदी: एमईडी13एल सिंड्रोम · தமிழ்: எம்ஈடி13எல் நோய்க்குறி · ಕನ್ನಡ: ಎಂಇಡಿ13ಎಲ್ ಸಿಂಡ್ರೋಮ್ · తెలుగు: ఎంఈడి13ఎల్ సిండ్రోమ్ · বাংলা: এমইডি13এল সিনড্রোম · मराठी: एमईडी13एल सिंड्रोम · ગુજરાતી: એમઈડી13એલ સિન્ડ્રોમ
About this condition

A rare genetic disorder caused by mutations in the MED13L gene affecting brain development and multiple body systems. Children with this condition typically show delayed milestones in walking, talking, and learning along with distinctive facial features. Early intervention with therapy and special education helps children reach their potential.

Common symptoms
developmental delay intellectual disability speech delay low muscle tone facial abnormalities heart defects
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When to see a doctor: routine checkup recommended with genetics specialist
Take action
This condition in Indian languages
Hindi (हिंदी)एमईडी13एल सिंड्रोम · विकासात्मक देरी · बौद्धिक अक्षमता · वाणी में देरी
Tamil (தமிழ்)எம்ஈடி13எல் நோய்க்குறி · வளர்ச்சி தாமதம் · அறிவுசார் குறைபாடு
Kannada (ಕನ್ನಡ)ಎಂಇಡಿ13ಎಲ್ ಸಿಂಡ್ರೋಮ್ · ಬೆಳವಣಿಗೆ ವಿಳಂಬ · ಬೌದ್ಧಿಕ ಅಸಾಮರ್ಥ್ಯ
Telugu (తెలుగు)ఎంఈడి13ఎల్ సిండ్రోమ్ · అభివృద్ధి ఆలస్యం · మేధో వైకల్యం
Bengali (বাংলা)এমইডি13এল সিনড্রোম · বিকাশজনিত বিলম্ব · বুদ্ধি প্রতিবন্ধকতা
Marathi (मराठी)एमईडी13एल सिंड्रोम · विकासात्मक विलंब · बौद्धिक अक्षमता
Gujarati (ગુજરાતી)એમઈડી13એલ સિન્ડ્રોમ · વિકાસલક્ષી વિલંબ · બૌદ્ધિક અક્ષમતા
Frequently asked questions
What are the symptoms of MED13L syndrome?
developmental delay, intellectual disability, speech delay, low muscle tone, facial abnormalities, heart defects.
When should I see a doctor?
routine checkup recommended with genetics specialist
Is MED13L syndrome common in India?
This condition is seen across India.
How serious is MED13L syndrome?
Severity is classified as Serious. routine checkup recommended with genetics specialist.
Related conditions
Important: This information is for general awareness only and is not a substitute for professional medical advice. Always consult a qualified doctor. In an emergency, call 112. Data sourced from NIH NLM and MOHFW India. Full disclaimer