Phenotype #0000038736

Individual ID 00052117
Associated disease KLEFS
Intellectual_dis yes
Diagnosis/Initial -
Phenotype details 9q subtelomeric deletion syndrome; weight >>99th, height >>99th, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-abnormal myelination; disturbed sleep pattern, self mutilation, hyperphagia; 17m-walk, 5y-speech few words
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details weight 4380 (95th)
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 2015-10-16 11:37:26 +02:00 (CEST)
Date last edited 2015-10-16 11:44:40 +02:00 (CEST)

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