Phenotype #0000341640

Individual ID 00452994
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 40w, vaginal delivery, weight 3.30 kg; moderate intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); no musculoskeletal abnormalities (-HP:0033127); seizure (HP:0001250); no facial dysmorphism -(HP:0001999); MRI brain subcortical heterotopia (HP:0410263); phimosis (HP:0000119); no microcephaly (-HP:0000252); no hearing impairment (-HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); autistic behavior (HP:0000729)
Inheritance Isolated (sporadic)
Age/Examination 6y (6 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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