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X-linked intellectual deficit, Golabi-Ito-Hall type

1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

Rare isolated myopia

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

X-linked intellectual deficit, Golabi-Ito-Hall type

Rare isolated myopia

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


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

Citations in the biomedical literature:

X-linked intellectual deficit, Golabi-Ito-Hall type		Rare isolated myopia

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic 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: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

X-linked intellectual deficit, Golabi-Ito-Hall type
	Very frequent - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Long face - Microcephaly - Narrow face - Short stature / dwarfism / nanism - Triangular face - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Brittle hair / distrix / trichorrhexis - Epicanthic folds - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness Occasional - Seizures / epilepsy / absences / spasms / status epilepticus
Rare isolated myopia
(no data available)