Phenotype #0000347727

Individual ID	00460000
Associated disease	peroxisomal acyl-CoA
Phenotype details	see paper; .., birt at term, weight 3750g, length 54cm, OFC 34cm; neonatal hypotonia, partial seizures; 4m-severe hypotonia, no active posture, decreased tendon reflezes; no craniofacial dysmorphism, psychomotor retardation, no retinopathy/optic atrophy, no white matter demyelination, no impaired hearing; 1y-polymicrogyria;2.6y-walk with support, psychomotor delay, mildly deaf
Diagnosis/Initial	hypotonia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	peroxisomal acyl-CoA oxidase deficiency
Age/Examination	2.6y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-15 15:12:28 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD