Phenotype #0000038748

Individual ID 00052129
Associated disease KLEFS
Intellectual_dis -
Diagnosis/Initial -
Phenotype details 9q subtelomeric deletion syndrome; weight 50th, height 3rd, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, abnormal EEG, no epilepsy, Hearing loss, small ears, small hands, supernumerary nipples, cryptorchidism, MRI-normal; psychoses passiveness; 16y-temporary regression, dementia-like
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details weight 4350 (>90th)
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 15:12:19 +02:00 (CEST)
Date last edited N/A

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