mccc2 Phenotypes

Phenotypes

XB-GENEPAGE-985829

Gene Symbol: mccc2 Gene Name: methylcrotonyl-CoA carboxylase subunit 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (31 sources): Abnormal cerebral vascular morphology, Abnormal circulating leucine concentration, Abnormality of movement, Acute hyperammonemia, Coma, Failure to thrive, Failure to thrive in infancy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hyperammonemia, Hyperglycinuria, Hyperreflexia, Hypoglycemia, Hypotonia, Intellectual disability, Ketoacidosis, Ketonuria, Lethargy, Metabolic acidosis, obsolete Hypotrichosis, obsolete Psychomotor retardation, Opisthotonus, Organic aciduria, Propionyl-CoA carboxylase deficiency, Respiratory insufficiency, Seborrheic dermatitis, Seizure, Skeletal muscle atrophy, Spasticity, Vomiting [+]
Mouse (4 sources): decreased bone mineral content, decreased lean body mass, increased total body fat amount, preweaning lethality, complete penetrance
View all ortholog results at Monarch