ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Intellectual deficit, X-linked, Siderius type

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type


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		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): (no synonyms)		Synonym(s): - HCHWA, Piedmont 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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Intellectual deficit, X-linked, Siderius type		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Very frequent - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - 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 - Autosomal dominant inheritance - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality