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X-linked intellectual deficit, Golabi-Ito-Hall type
1 associated gene
26 connected diseases
16 signs/symptoms
Disease Type of connection
Hamel cerebro-palato-cardiac syndrome
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Spinocerebellar ataxia type 1
Precursor T-cell acute lymphoblastic leukemia
Chronic respiratory distress with surfactant metabolism deficiency
Congenital pulmonary alveolar proteinosis
Desquamative interstitial pneumonia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Idiopathic pulmonary fibrosis
Infant acute respiratory distress syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Fatal infantile cytochrome C oxidase deficiency
Huntington disease
Juvenile Huntington disease
Kennedy disease
Leigh syndrome with cardiomyopathy
Partial androgen insensitivity syndrome
Rare isolated myopia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
PQBP1 O60828300463
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