Phenotype #0000356084

Individual ID 00471248
Associated disease NBIA5
Phenotype details Neurodevelopmental delay, Delayed speech and language development, Intellectual disability, Febrile seizure (within the age range of 3 months to 6 years), Hearing impairment, Abnormality of the face
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2025-12-19 14:05:17 +01:00 (CET)
Date last edited 2025-12-19 19:49:16 +01:00 (CET)

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