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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
20 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Osteoglophonic dwarfism

CACNG2 FGFR1
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.63)
FGFR1



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Osteoglophonic dwarfism
FGFR1



Autosomal dominant nonsyndromic intellectual deficit
Osteoglophonic dwarfism

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
13 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536050

Osteoglophonic dwarfism

Very frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Hypertelorism
- Short stature / dwarfism / nanism

Frequent
- Anteverted nares / nostrils
- Clavicle absent / abnormal
- Delayed bone age
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Rhizomelic micromelia

Occasional
- Abnormal / absent ossification
- Choanal atresia
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Scoliosis
- Short hand / brachydactyly
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Autosomal dominant nonsyndromic intellectual deficit

(no data available)