Phenotype #0000274251

Individual ID 00380401
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; no GI/feeding abnormalities; ophthalmologic abnormalities; variable hypotonia muscle; movement/neurological disorder; febrile to non-febrile seizures; microcephaly; MRI brain abnormalities
Inheritance Isolated (sporadic)
Age/Examination 4y (4 years)
Age/Diagnosis -
Age/Onset 6m
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 2021-08-16 13:20:55 +02:00 (CEST)
Date last edited N/A

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