APOO

Panel	Reviews	Mode of inheritance	Details
Amber APOO in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, APOO-related Developmental delay Lactic acidosis Muscle weakness Hypotonia Repetitive infections Cognitive impairment Autistic behaviour
Amber APOO in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Literature Phenotypes Mitochondrial disease, MONDO:0044970, APOO-related Developmental delay Lactic acidosis Muscle weakness Hypotonia Repetitive infections Cognitive impairment Autistic behaviour

Panel

Reviews

Mode of inheritance

Details

Version 1.1891

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

Metabolic Disorders Superpanel

Progressive Neurological Conditions

review

X-LINKED: hemizygous mutation in males, biallelic mutations in females

2 panels