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Rare isolated myopia

3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Hamel cerebro-palato-cardiac syndrome

1 associated gene
11 signs/symptoms

Rare isolated myopia

Hamel cerebro-palato-cardiac syndrome

LEPREL1	(UniProt - OMIM)		PQBP1	(UniProt - OMIM)
LRPAP1	(UniProt - OMIM)
SCO2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SCO2	(0.49)	PQBP1

Citations in the biomedical literature:

Rare isolated myopia		Hamel cerebro-palato-cardiac syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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

	External references: 3 OMIM references - No MeSH references		External references: No OMIM references No MeSH references

Hamel cerebro-palato-cardiac syndrome
	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
Rare isolated myopia
(no data available)