3-methylcrotonyl-CoA carboxylase 1 deficiency is a metabolic condition that results from mutations in the MCCC1 gene and affects the body’s ability to...

3-methylcrotonyl-CoA carboxylase 2 deficiency is a metabolic condition that primarily affects the growth and nervous system, manifesting with neurodev...

3-methylcrotonyl-CoA carboxylase deficiency is an inherited metabolic disorder affecting the breakdown of the amino acid leucine. The clinical picture...

3-methylglutaconic aciduria refers to a group of inherited metabolic disorders characterized primarily by impaired mitochondrial function that leads t...

3-methylglutaconic aciduria type 1 is an inherited metabolic disorder affecting leucine metabolism, with clinical manifestations that primarily impact...

3-methylglutaconic aciduria type 3 is an organic aciduria that is primarily characterized by optic atrophy, choreoathetosis, and the metabolic finding...

3-methylglutaconic aciduria type 4 is a clinically heterogeneous metabolic disorder characterized by increased excretion of 3-methylglutaconic acid an...

3-methylglutaconic aciduria type 5 is a multisystem disorder marked by severe early onset involvement of the heart, nervous system, growth, and metabo...

3-methylglutaconic aciduria type 8 is a very rare metabolic condition that affects multiple organ systems including the digestive, ear, eye, growth, n...

3-methylglutaconic aciduria type 9 is a very rare multisystem disorder that primarily affects the nervous system, growth, and ocular function. It is c...

3-methylglutaconic aciduria, type VIIA is an inherited metabolic condition that affects both the nervous system and blood and immune systems. It is ca...

3-methylglutaconic aciduria, type VIIB is a very rare metabolic disorder that primarily affects multiple systems including the nervous system, eyes, g...

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome is a multisystem metabolic condition that primarily affects the ner...

3-M syndrome is a primordial growth disorder that primarily affects skeletal development and overall growth, with marked intrauterine growth restricti...

3M syndrome 1 is a congenital disorder that primarily affects growth, characterized by significant intrauterine growth restriction and growth delay. I...

3M syndrome 2 is a disorder affecting growth and the skeletal system that is characterized by severe short stature and distinct facial and skeletal fe...

3M syndrome 3 is a congenital condition that primarily affects growth and the skeletal system, leading to marked prenatal-onset growth restriction and...

3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or related EEG abnormalities, poor spee...

3-phosphoglycerate dehydrogenase deficiency is a metabolic disorder that falls within the spectrum of serine deficiency disorders. Recognized subtypes...

3p- syndrome is a chromosomal anomaly resulting from a partial deletion of the short arm of chromosome 3. It is a very rare condition, affecting fewer...