ODCs

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1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

2 OMIM references -
2 associated genes
10 signs/symptoms

Opsismodysplasia

Isolated 3-methylcrotonyl-CoA carboxylase deficiency

INPPL1	(UniProt - OMIM)		MCCC1	(UniProt - OMIM)
			MCCC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INPPL1	(0.72)	MCCC2

Citations in the biomedical literature:

Opsismodysplasia		Isolated 3-methylcrotonyl-CoA carboxylase deficiency
	Synonym(s): (no synonyms)		Synonym(s): - 3-methylcrotonylglycinuria - MCC deficiency - MCCD

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537122		External references: 2 OMIM references - 1 MeSH reference: C535308


COMMON SIGNS	- Hypotonia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Opsismodysplasia		Isolated 3-methylcrotonyl-CoA carboxylase deficiency
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Delayed bone age - Depressed nasal bridge - Epiphyseal anomaly - Frontal bossing / prominent forehead - Lack / delayed ossification of spine / vertebrae - Large fontanelle / delayed fontanelle closure - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rhizomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Tapered fingers Frequent - Brachycephaly / flat occiput - Repeat respiratory infections Occasional - Blue sclerae - Broad / bifid thumb - Hepatomegaly / liver enlargement (excluding storage disease) - Narrow rib cage / thorax - Pectus excavatum - Restricted joint mobility / joint stiffness / ankylosis - Splenomegaly		Very frequent - Hypoglycemia - Metabolic anomalies - Organic acid metabolism anomalies Frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperammonemia - Movement disorder Occasional - Cerebral vascular anomalies - Hypertonia / spasticity / rigidity / stiffness