Genetics

Holocarboxylase synthetase deficiency

Osteoglophonic dysplasia

Otospondylomegaepiphyseal dysplasia

UMOD gene

PHOX2A gene

Metachromatic leukodystrophy

Uromodulin-associated kidney disease

Arginineglycine amidinotransferase deficiency

FZD2 gene

Mitochondrial neurogastrointestinal encephalopathy disease

1p36 deletion syndrome

Mucolipidosis II alphabeta