16q24.1 microdeletion syndrome is a chromosomal deletion condition that predominantly affects the pulmonary system, manifesting as a lethal pulmonary...

16q24.3 microdeletion syndrome is a recently described condition where a small piece of chromosome 16 is missing. This change in the chromosome can be...

17q11.2 microduplication syndrome is a condition characterized by distinctive dysmorphic features and intellectual challenges, impacting primarily gro...

17q24.2 microdeletion syndrome is a rare genetic disorder that causes several congenital malformations and developmental problems. People with this co...

19p13.12 microdeletion syndrome is a newly described condition characterized by moderate to severe developmental delay, language delay, bilateral hear...

19p13.3 microduplication syndrome is a rare genetic condition characterized by intellectual disability, growth abnormalities, and mild dysmorphic feat...

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly that is characterized by severe speech and language delay, intellectual deficie...

1p35.2 microdeletion syndrome is a chromosomal disorder resulting from a deletion in the 1p35.2 region and is classified as a structural chromosomal a...

1q44 microdeletion syndrome is a chromosomal disorder characterized by a deletion in the terminal region of the long arm of chromosome 1, which is ass...

20p12.3 microdeletion syndrome is a condition characterized by the presence of Wolff-Parkinson-White syndrome, variable developmental delay, and disti...

20p13 microdeletion syndrome is a rare chromosomal anomaly that primarily affects growth and the nervous system. It is characterized by developmental...

20q11.2 microdeletion syndrome is a genetic condition characterized by syndromic intellectual disability, psychomotor delay, and distinctive craniofac...

20q11.2 microduplication syndrome is a rare chromosomal anomaly that results from a partial duplication of the long arm of chromosome 20. It is charac...

20q13.33 microdeletion syndrome is a chromosomal anomaly that results from a partial deletion of the long arm of chromosome 20 and is characterized by...

21q22.11q22.12 microdeletion syndrome is a condition characterized by a small deletion affecting a portion of chromosome 21. Although the full clinica...

22q11.2 deletion syndrome is a congenital malformation disorder that affects multiple systems, including the heart, immune system, palate, and facial...

22q-related schwannomatosis is a condition where people have a higher chance of developing multiple schwannomas, which are tumors that grow on the ner...

2-aminoadipic 2-oxoadipic aciduria is a metabolic disorder that primarily affects neurodevelopment and metabolic processing. It is caused by pathogeni...

2-hydroxyglutaric aciduria comprises a group of neurometabolic disorders that can range from severe neonatal presentations to progressive forms and ev...

2-methylacetoacetyl CoA thiolase deficiency is a condition for which detailed clinical data are limited, and its exact categorization within metabolic...