2-methylbutyryl-CoA dehydrogenase deficiency, also known as SBCAD deficiency or 2-methylbutyric aciduria, is a rare genetic condition that affects how...

2p13.2 microdeletion syndrome is a rare condition characterized by a partial autosomal monosomy that affects multiple aspects of development. Affected...

2p21 microdeletion syndrome is a chromosomal disorder characterized by a microdeletion on the short arm of chromosome 2, with clinical features that i...

2p21 microdeletion syndrome without cystinuria is a rare chromosomal condition that results from a partial deletion on the short arm of chromosome 2,...

2q13 microdeletion syndrome is a chromosomal condition characterized by the loss of a small segment of genetic material from the long arm of chromosom...

2q23.1 microdeletion syndrome is a chromosomal disorder characterized by significant neurodevelopmental challenges including severe intellectual impai...

2q23.1 microduplication syndrome is a rare chromosomal anomaly that results from a partial duplication of the long arm of chromosome 2. It primarily p...

2q24 microdeletion syndrome is a chromosomal anomaly resulting from a partial deletion on the long arm of chromosome 2 and is characterized by a wide...

2q31.1 microdeletion syndrome is a chromosomal disorder characterized by moderate to severe developmental delay, short stature, distinctive facial fea...

2q33.1 microdeletion syndrome is a rare chromosomal anomaly resulting from the partial deletion of the long arm of chromosome 2. The condition is char...

2q37 microdeletion syndrome is a chromosomal anomaly characterized by the partial loss of genetic material at the end of the long arm of chromosome 2....

3-hydroxy-3-methylglutaric aciduria is an organic aciduria that primarily affects metabolic pathways related to ketogenesis and leucine metabolism, sp...

3-hydroxy-3-methylglutaryl-CoA synthase deficiency is a metabolic disorder affecting ketone body production and primarily involves the nervous system,...

3-hydroxyacyl-CoA dehydrogenase deficiency is a metabolic condition that affects the body’s ability to properly break down certain fatty acids. The di...

3-hydroxyisobutyric aciduria is an organic aciduria that affects valine metabolism and is characterized by ketoacidotic episodes, cerebral anomalies,...

3-hydroxyisobutyryl-CoA hydrolase deficiency is a neurodegenerative disorder affecting the nervous system and growth, and it is characterized by delay...

3MC syndrome is a rare developmental disorder that unifies several conditions previously known by other names and is characterized by distinctive cran...

3MC syndrome 1 is a multisystem disorder primarily affecting craniofacial development, growth, and aspects of the nervous system. It is caused by path...

3MC syndrome 2 is a multi-system condition that primarily affects craniofacial development, skeletal structure, and growth, with involvement of the ne...

3MC syndrome 3 is a congenital condition that falls within a group of disorders characterized by craniofacial and genitourinary anomalies. It is cause...