is a rare inherited metabolic disorder causing mitochondrial dysfunction and multisystem symptoms.

is a rare inherited metabolic disorder causing brain and developmental problems.

is a rare metabolic disorder with excess 3-methylglutaconic acid, multisystem symptoms.

is an inherited mitochondrial disorder causing energy problems and elevated 3-methylglutaconic acid.

is a rare inherited disorder causing mitochondrial dysfunction and excess 3-methylglutaconic acid.

is a rare, early-onset metabolic disorder causing low serine, seizures, developmental delays.

is a childhood-onset genetic disorder causing low serine and neurodevelopmental problems.

is a rare genetic disorder causing craniofacial, cerebellar, and heart anomalies.

is a rare inherited disorder with prenatal and postnatal growth restriction.

is a rare genetic disorder causing facial differences and developmental delays.

is a rare inherited disorder affecting facial features, growth, and development.

is a rare genetic syndrome causing facial differences, clefts, hernias, developmental delays.

is a rare inherited disorder causing craniofacial differences and developmental delays.

is a rare chromosomal deletion causing developmental delays and congenital anomalies.

is a rare chromosomal deletion causing developmental delay, speech issues, distinctive features.

is a rare chromosomal duplication causing developmental delays and variable features.

is a rare chromosome 3 deletion causing developmental delays and congenital differences.

is a rare genetic disorder from 3q27.3 deletion, causing variable developmental delays.

is a rare chromosomal deletion causing developmental delays and mental health risks.

is a chromosome microduplication causing developmental, learning, behavioral, and variable medical features.

is an immune-mediated skin allergy causing itchy rash at contact sites.

is an inhaled chemical sensitivity causing work-related asthma and rhinitis.

is a differences in sex development (DSD) with mosaic sex chromosomes.

describes variations in sex development in people with two X chromosomes.