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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Cardiomyopathy - hypotonia - lactic acidosis
Ichthyosis-hypotrichosis syndrome

SLC25A3 ST14


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC25A3
(0.63)
ST14



Citations in the biomedical literature:


Cardiomyopathy - hypotonia - lactic acidosis
SLC25A3
Ichthyosis-hypotrichosis syndrome
ST14



Cardiomyopathy - hypotonia - lactic acidosis
Ichthyosis-hypotrichosis syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Hypotrichosis - congenital ichthyosis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin 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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Ichthyosis-hypotrichosis syndrome

Very frequent
- Autosomal recessive inheritance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis



Cardiomyopathy - hypotonia - lactic acidosis

(no data available)