Disease: 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Name 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Synonyms 2-METHYLBUTYRYL GLYCINURIA , SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; SBCADD

Classification genetic, metabolism, neurological

Phenotypes Apneic episodes in infancy; Autosomal recessive inheritance; Exotropia; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypothermia; Infantile onset; Lethargy; Microcephaly; Motor delay; Muscular hypotonia; Seizure

Associated Genes ACADSB (Withdrawn symbols: ACAD7, SBCAD )

Mouse Orthologs Acadsb (Withdrawn symbols: 1300003O09Rik, BB066609 )

Source OMIM:610006 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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