Phenotype #0000341639

Individual ID 00452993
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 36w, vaginal delivery, weight 2.10 kg; severe intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); polydactyly, syndactyly, musculoskeletal abnormalities (HP:0033127); no seizure (-HP:0001250); facial dysmorphism (HP:0001999); MRI brain normal (-HP:0410263); congenital hydronephrosis (HP:0000119); microcephaly (HP:0000252); no hearing impairment (-HP:0000365); failure to thrive (HP:0001508); congenital heart disease (HP:0001627); no autistic behavior (-HP:0000729)
Inheritance Isolated (sporadic)
Age/Examination 5y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2024-08-10 16:01:26 +02:00 (CEST)
Date last edited N/A

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