Phenotype #0000325793

Individual ID 00435608
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details developmental delay; severe intellectual disability; microcephaly (-2.14); MRI brain abnormal; no neuropsychiatric disorders; seizures; drug-resistant epilepsy; axial hypotonia; appendicular hypertonia; increased reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; short stature; failure to thrive; recurrent infections
Inheritance Isolated (sporadic)
Age/Examination 16y (16 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 2023-08-06 10:54:39 +02:00 (CEST)
Date last edited N/A

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