Disease Index
9,486 diseases2-methylbutyryl-CoA dehydrogenase deficiency
gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.
MeSH: C566487
2,4 Dienoyl-CoA reductase deficiency
medical condition
MeSH: C565624
20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.
20p13 microdeletion syndrome
human disease
20q11.2 microdeletion syndrome
human disease
20q11.2 microduplication syndrome
20q13.33 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
human disease
22q11 deletion syndrome
chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features
MeSH: D058165
22q13 deletion syndrome
human disease
ICD: Q93MeSH: C536801
2p13.2 microdeletion syndrome
human disease
2p15-16.1 microdeletion syndrome
Human disease
MeSH: C567289
2p21 microdeletion syndrome
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia
2p21 microdeletion syndrome without cystinuria
human disease
2q23.1 microdeletion syndrome
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
2q23.1 microduplication syndrome
2q24 microdeletion syndrome
MeSH: C538316
2q31.1 microdeletion syndrome
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
2q31.1 microduplication syndrome
human disease
2q33.1 microdeletion syndrome
2q37 monosomy
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism
MeSH: C538317
3 hydroxyisobutyric aciduria
medical condition
MeSH: C535312
3 methylcrotonyl-coa carboxylase 1 deficiency
human disease
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
medical condition
MeSH: C538324
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
MeSH: C567784
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
human disease
3-M syndrome
autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities
MeSH: C535314
3-methylcrotonyl-CoA carboxylase deficiency
Human disease
MeSH: C535308
3-methylglutaconic aciduria
organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine
MeSH: C579867
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22
MeSH: C562801