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1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Intellectual deficit, X-linked, Siderius type
Hereditary cerebral hemorrhage with amyloidosis, Iowa 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, Iowa type
APP



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

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Iowa 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
Hereditary cerebral hemorrhage with amyloidosis, Iowa 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


Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Cerebral vascular anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intracranial / cerebral / meningeal hemorrhage
- Myoclonus / fasciculations
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia