Phenotype #0000233323

Individual ID 00307900
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., severe developmental delay, intellectual disabillity (FSIQ 40); ADHD, sleep disorder, disruptive behavior; seizures; partial agenesis corpus callosum; recurrent urinary tract infections; no congenital heart defect; no orofacial malformations; severe myopia; round face, flat facial profile, down-slanting corners mouth, depressed nasal bridge, prognathism, low-set ears, almond-shaped eyes
Inheritance Isolated (sporadic)
Age/Examination 29y (29 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 2020-08-21 08:54:19 +02:00 (CEST)
Date last edited 2020-08-22 13:14:48 +02:00 (CEST)

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