Global Variome shared LOVD

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Phenotype #0000341662 Individual ID 00453018 Associated disease KLEFS Intellectual_dis - Diagnosis/Initial Kleefstra syndrome phenotypic spectrum Phenotype details intellectual disability; childhood hypotonia; no microcephaly; short stature; no overweight; no brachycephaly; midface hypoplasia; no coarse facies; hypertelorism; no synophrys; no arched eyebrows; short nose; anteverted nostrils; macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; no dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-08-14 10:39:18 +02:00 (CEST) Date last edited N/A

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