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Developmental and speech delay due to SOX5 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
1 OMIM reference -
1 associated gene
3 signs/symptoms
Developmental and speech delay due to SOX5 deficiency
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

SOX5
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX5
(0.56)
APP


Citations in the biomedical literature:


Developmental and speech delay due to SOX5 deficiency
SOX5
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP



Developmental and speech delay due to SOX5 deficiency
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Arctic type
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(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 dominant
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Developmental and speech delay due to SOX5 deficiency

(no data available)