Phenotype #0000351392

Individual ID	00466007
Associated disease	LS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	Leigh syndrome
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	born small for gestational age
Phenotype details	see paper; ..., born small for gestational age; pregnancy preeclampsia; intensive care nursery for poor feeding for 3w; eat orally, failure to thrive, 11m-gastrostomy tube; global developmental delay without regression, most notably in gross motor skills, 2y-walk; expressive speech, 16m-first babbling, 21m-sign 20–30 word; exercise intolerance; dysmorphic facial features (midfacial hypoplasia, prominent cheeks, micro/retrognathia, epicanthus, down-slanting palpebral fissures, smooth philtrum, thin upper lip; intermittent mild lactatemia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-07-06 15:31:07 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD