ODCs

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1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Hamel cerebro-palato-cardiac syndrome

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

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