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1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
5 associated genes
No signs/symptoms info
X-linked intellectual deficit, Golabi-Ito-Hall type
Fatal infantile cytochrome C oxidase deficiency

PQBP1 COX10
COX15
SCO1
SCO2
SURF1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


X-linked intellectual deficit, Golabi-Ito-Hall type
PQBP1
Fatal infantile cytochrome C oxidase deficiency
COX10 COX15 SCO1 SCO2 SURF1



X-linked intellectual deficit, Golabi-Ito-Hall type
Fatal infantile cytochrome C oxidase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Fatal infantile COX deficiency
- Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency

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

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

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
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
2 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)