Phenotype #0000351390

Individual ID 00466005
Associated disease LS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Leigh syndrome
Age/Examination 14m15d
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset failure to thrive
Phenotype details see paper; ..., 14m15d-failure to thrive, microcephaly (OFC 41cm, Z-4.7), hypotonia, gross motor skills <4m skill level), fine motor skills 6m level), no expressive language skills attendance to voices, nystagmus, esotropi, no retinal pathology
Protein -
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 2025-07-06 15:31:07 +02:00 (CEST)
Date last edited N/A

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