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1 associated gene
11 signs/symptoms
COMMON GENES: 1
1 associated gene
No signs/symptoms info
Hamel cerebro-palato-cardiac syndrome
X-linked intellectual deficit, Sutherland-Haan type

PQBP1 PQBP1


COMMON
GENES
PQBP1



Citations in the biomedical literature:


Hamel cerebro-palato-cardiac syndrome
PQBP1
X-linked intellectual deficit, Sutherland-Haan type



Hamel cerebro-palato-cardiac syndrome
X-linked intellectual deficit, Sutherland-Haan type

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: <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: x-linked recessive

External references:
No 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



X-linked intellectual deficit, Sutherland-Haan type

(no data available)