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

1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

Juvenile Huntington disease

1 OMIM reference -
1 associated gene
No signs/symptoms info

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

Juvenile Huntington disease

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

X-linked intellectual deficit, Golabi-Ito-Hall type		Juvenile Huntington disease
	Synonym(s): (no synonyms)		Synonym(s): - JHD - Juvenile Huntington chorea

	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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	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: 1-9 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 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
Juvenile Huntington disease
(no data available)