Phenotype #0000341659

Individual ID 00453015
Associated disease KLEFS
Intellectual_dis -
Diagnosis/Initial Kleefstra syndrome phenotypic spectrum
Phenotype details intellectual disability; childhood hypotonia; microcephaly; short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; no arched eyebrows; no short nose; no anteverted nostrils; no macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures
Diagnosis/Definite KLEFS2
Inheritance Isolated (sporadic)
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-08-14 10:39:18 +02:00 (CEST)
Date last edited 2024-08-14 10:45:56 +02:00 (CEST)

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