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Intellectual deficit, X-linked, Siderius type
1 OMIM reference -
1 associated gene
12 connected diseases
13 signs/symptoms
Disease Type of connection
X-linked non-syndromic intellectual deficit
Acute promyelocytic leukemia
Adams-Oliver syndrome
Methylmalonic acidemia with homocystinuria, type cblX
X-linked dystonia-parkinsonism
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
Synonym(s):
(no synonyms)
Classification (Orphanet):
- 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: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: C537333
Gene symbol UniProt reference OMIM reference
PHF8 Q9UPP1300560
Very frequent
- Broad nose / nasal bridge
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large hand
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Long face
- X-linked dominant inheritance

Frequent
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Low hair line (back)
- Preaxial polydactyly (hand)
- Scoliosis
- Synophris / synophrys