is a rare chromosomal disorder from 21q deletion, causing developmental differences.

is a rare chromosome deletion causing developmental delays and birth differences.

is a chromosome 22 deletion disorder causing heart, immune, palate, learning differences.

is a genetic condition from duplicated 22q11.2, with variable development and health.

is a rare chromosome deletion often causing developmental delays and learning difficulties.

is a rare chromosomal deletion causing developmental delays, learning and physical differences.

is a rare genetic condition from chromosome 2p21 deletion causing developmental delays.

is a rare genetic disorder causing low muscle tone and developmental delay.

is a rare genetic condition causing developmental delays, intellectual disability, and seizures.

is a rare chromosomal change causing developmental delays and intellectual disability.

is a rare chromosome 2q24 microdeletion causing developmental delays and epilepsy.

is a genetic condition from missing 2q31.1 DNA, causing limb differences.

is a rare chromosomal deletion causing developmental delays and characteristic features.

is a chromosomal deletion disorder causing developmental delay and intellectual disability.

is a rare inherited metabolic disorder affecting ketone production and leucine breakdown.

is a rare metabolic disorder causing fasting intolerance, hypoketotic hypoglycemia, metabolic crises.

is a fatty acid oxidation disorder causing low blood sugar (hypoglycemia).

is a rare inherited metabolic disorder affecting valine breakdown and brain function.

is a genetic metabolic disorder impairing leucine breakdown, often newborn-screened.

is a genetic leucine-processing disorder causing low blood sugar and metabolic crises.

is a genetic metabolic disorder affecting leucine breakdown, often newborn-screened, treatable.

is a rare metabolic disorder of mitochondria causing variable neurologic-muscular problems.

is a rare inherited disorder affecting leucine breakdown and energy metabolism.

is a rare inherited metabolic disorder causing optic atrophy and movement problems.