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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Hypodontia - dysplasia of nails

CREBBP MSX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.84)
MSX1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Hypodontia - dysplasia of nails
MSX1



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Hypodontia - dysplasia of nails

Synonym(s):
(no synonyms)

Synonym(s):
- Hypodontia - nail dysgenesis
- Tooth and nail syndrome
- Witkop syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hypodontia - dysplasia of nails

Very frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Nails anomalies
- Thin / hypoplastic toenails
- Tooth shape anomaly

Frequent
- Everted lower lip
- Fine hair

Occasional
- Abnormal / polycystic ovaries


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)