Phenotype #0000306931

Individual ID 00415130
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite DEDBANP
Phenotype details 11m-walk; 17m-walk; 24m-first words; developmental delay; no intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; sleep disturbance; MRI brain nodular heterotopia; facial dysmorphism; no macrocephaly; no overweight; joint hypermobility; migraine,dermatological issues, genital abnormalities, borderline short stature, advance bone age, clinodactyly
Inheritance Isolated (sporadic)
Age/Examination 10y (10 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 2022-08-08 15:58:51 +02:00 (CEST)
Date last edited 2024-12-10 18:59:34 +01:00 (CET)

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