ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Early-onset spastic ataxia-neuropathy syndrome

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

AFG3L2	(UniProt - OMIM)		BTK	(UniProt - OMIM)
			ELF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AFG3L2	(0.68)	BTK

Citations in the biomedical literature:

Early-onset spastic ataxia-neuropathy syndrome		Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
	Synonym(s): - AFG3L2-associated spastic ataxia-neuropathy syndrome - Autosomal recessive spastic ataxia type 5 - SPAX5		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

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

No signs/symptoms info available.