ODCs

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

PROTEIN INTERACTIONS: 1

1 associated gene
16 signs/symptoms

Fatal infantile cytochrome C oxidase deficiency

X-linked intellectual deficit, Golabi-Ito-Hall type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SCO2	(0.49)	PQBP1

Citations in the biomedical literature:

Fatal infantile cytochrome C oxidase deficiency		X-linked intellectual deficit, Golabi-Ito-Hall type
	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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

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

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

X-linked intellectual deficit, Golabi-Ito-Hall type
	Very frequent - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Long face - Microcephaly - Narrow face - Short stature / dwarfism / nanism - Triangular face - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Brittle hair / distrix / trichorrhexis - Epicanthic folds - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness Occasional - Seizures / epilepsy / absences / spasms / status epilepticus
Fatal infantile cytochrome C oxidase deficiency
(no data available)