Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Intellectual deficit, X-linked, Siderius type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

PHF8 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PHF8
(0.56)
APP



Citations in the biomedical literature:


Intellectual deficit, X-linked, Siderius type
PHF8
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP



Intellectual deficit, X-linked, Siderius type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Flemish type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: x-linked recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C537333
External references:
1 OMIM reference -
No MeSH references

Intellectual deficit, X-linked, Siderius type

Very frequent
- Broad nose / nasal bridge
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large hand
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Long face
- X-linked dominant inheritance

Frequent
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Low hair line (back)
- Preaxial polydactyly (hand)
- Scoliosis
- Synophris / synophrys


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)