ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Familial scaphocephaly syndrome, McGillivray type

Hereditary cerebral hemorrhage with amyloidosis, Italian type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2	(0.56)	APP

Citations in the biomedical literature:

Familial scaphocephaly syndrome, McGillivray type		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit		Synonym(s): - HCHWA, Italian type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: autosomal dominant		Epidemiological data: (no data available)

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


COMMON SIGNS	- Autosomal dominant inheritance

Familial scaphocephaly syndrome, McGillivray type		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Very frequent - High forehead - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Dental malocclusion - Dolichocephaly / scaphocephaly - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface Occasional - Broad / bifid big toe - Dilated cerebral ventricles without hydrocephaly - Prognathism / prognathia - Syndactyly of toes - Trigonocephaly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures		Very frequent - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus