Phenotype #0000325805

Individual ID 00435620
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details developmental delay; moderate intellectual disability; microcephaly (-2.3); MRI brain abnormal; no neuropsychiatric disorders; seizures; no drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; short stature; no failure to thrive; no recurrent infections
Inheritance Isolated (sporadic)
Age/Examination 8y (8 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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