ODCs

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2 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
25 signs/symptoms

Fatal infantile cytochrome C oxidase deficiency

Amish lethal microcephaly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COX15	(0.58)	SLC25A19

Citations in the biomedical literature:

Fatal infantile cytochrome C oxidase deficiency		Amish lethal microcephaly
	Synonym(s): - Fatal infantile COX deficiency - Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Amish lethal microcephaly
	Very frequent - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Death in infancy - Failure to thrive / difficulties for feeding in infancy / growth delay - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Intellectual deficit / mental / psychomotor retardation / learning disability - Metabolic decompensation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Organic acid metabolism anomalies - Sloping forehead Frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Spina bifida Occasional - Fetal immobility / abnormal fetal movements - Hepatomegaly / liver enlargement (excluding storage disease) - Immobile soft palate / soft palate anomaly - Poorly ossified skull / calvarium - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus
Fatal infantile cytochrome C oxidase deficiency
(no data available)