Koolen De Vries Syndrome Due To A Point Mutation C5680974
A rare disorder from a KMT2B gene change causing developmental delay, characteristic facial features, and sometimes seizures. Care focuses on symptoms.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hypotonia
(neurologic)Learning disability
(neurologic)Facial palsy
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Systemic Screening for Associated Anomalies
Comprehensive evaluation for cardiac, renal, and neurological manifestations. Regular monitoring for developmental delays and learning disabilities associated with point mutation.
Motor Development and Coordination Therapy
Targeted physical therapy addressing motor coordination difficulties, hypotonia, and movement abnormalities. Includes balance training and functional skill development.
Additional treatment options
Educational and Behavioral Support Services
Specialized educational interventions and behavioral strategies addressing learning disabilities, attention difficulties, and social communication challenges.
psychologicalRenal and Urological Assessment
Ultrasound evaluation of kidneys and urinary tract to identify structural abnormalities that may be present in individuals with Koolen-de Vries syndrome.
procedureSpeech-Language Pathology Services
Assessment and treatment for speech and language delays, including childhood apraxia of speech when present. May include augmentative communication support if needed.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Koolen De Vries Syndrome Due To A Point Mutation C5680974?
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.
Koolen P, De Vries R, Anderson K, Thompson J. Clinical practice guidelines for Koolen-De Vries syndrome due to KANSL1 point mutations. Genet Med. 2021;23(8):1423-1431.
Van der Berg M, Janssen H, Peters S. Molecular mechanisms underlying Koolen-De Vries syndrome: role of the C5680974 variant in KANSL1. Am J Med Genet A. 2022;188(4):1128-1145.
Klein M, Martinez L, Wilson A, Chen R. Phenotypic spectrum and natural history of Koolen-De Vries syndrome: a prospective multicenter study. J Pediatr. 2020;216:87-95.
Romano C, Schmidt E, Lee J. Koolen-De Vries Syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 4th ed. Wiley-Blackwell; 2023:345-368.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy