ODCs

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1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Hamel cerebro-palato-cardiac syndrome

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PQBP1	(0.56)	APP

Citations in the biomedical literature:

Hamel cerebro-palato-cardiac syndrome		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): (no synonyms)		Synonym(s): - HCHWA, Piedmont type

	Classification (Orphanet): - Rare abdominal surgical disease - 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: normal Type of inheritance: x-linked recessive		Epidemiological data: (no data available)

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


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

Hamel cerebro-palato-cardiac syndrome		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Very frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - External ear anomalies - Long / large / bulbous nose - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Short stature / dwarfism / nanism - X-linked recessive inheritance		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