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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
19 signs/symptoms
Nestor-Guillermo progeria syndrome
Acrofacial dysostosis, Weyers type

BANF1 EVC
EVC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BANF1
(0.63)
EVC2



Citations in the biomedical literature:


Nestor-Guillermo progeria syndrome
BANF1
Acrofacial dysostosis, Weyers type
EVC EVC2



Nestor-Guillermo progeria syndrome
Acrofacial dysostosis, Weyers type

Synonym(s):
- NGPS

Synonym(s):
- Curry-Hall syndrome
- Weyers acrodental dysostosis
- Weyers acrofacial dysostosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536695

Acrofacial dysostosis, Weyers type

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal fingernails
- Abnormal toenails
- Anodontia / oligodontia / hypodontia
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Oral synechiae / abnormal frenulae
- Postaxial polydactyly (hand)
- Premature eruption of teeth / natal teeth
- Short stature / dwarfism / nanism
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Tooth shape anomaly

Frequent
- Antihelix anomaly
- Clinodactyly of fifth finger
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Facial cleft
- Small hand / acromicria



Nestor-Guillermo progeria syndrome

(no data available)