Phenotype #0000291660

Individual ID 00398532
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Unknown
Phenotype details see paper; ..., developmental delay, mild intellectual disability ; speech delay; functional heart murmur, chronic vomiting, diarrhea, urolithiasis, bilateral inguinal hernia, cryptorchidism; facial dysmorphies; paroxysmal sleep episodes; attention-deficit hyperactivity disorder, hyperactivity; EEG abnormal
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-01-06 09:27:03 +01:00 (CET)
Date last edited N/A

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