Phenotype #0000331284

Individual ID 00441895
Associated disease NDD
Diagnosis/Initial neurodevelopmental dealy
Diagnosis/Definite XLID111
Phenotype details see paper; ..., OFC >+2 SDS; height 0 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; no spasticity, no dystonia; steady gait; major anxiety, autism spectrum disorder, mutism, aggressiveness; MRI brain normal
Inheritance Isolated (sporadic)
Age/Examination 28y (28 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 2023-11-14 19:43:56 +01:00 (CET)
Date last edited N/A

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