Phenotype #0000216389

Individual ID	00281811
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	5d-died; polyhydramnios, reduced foetal and no postnatal spontaneous movements, required ventilation, dysmorphic features, severe encephalopathy; MRI-brain cerebellar and brainstem hypoplasia with simplified anterior gyral pattern anteriorly, diffuse white matter signal abnormality, marked ex vacuo ventricular dilatation consistent with global atrophy; plasma lactate elevated up to 6.2 mM, borderline low CI, CIII, CIV in skeletal muscle but normal in skin fibroblasts, decreased steady state levels of a critical CI and CIV subunit in fibroblasts and RNASeq results indicative of decreased expression of a broad range of OXPHOS factors
Inheritance	Familial, autosomal recessive
Age/Examination	5d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-02-03 22:05:46 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD