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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
EEM syndrome

CACNG2 CDH3
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
(0.86)
CDH3



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
EEM syndrome
CDH3



Autosomal dominant nonsyndromic intellectual deficit
EEM syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Ectodermal dysplasia - ectrodactyly - macular dystrophy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

EEM syndrome

Very frequent
- Autosomal recessive inheritance
- Decreased body hair / axillar / pubic hairlessness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Macular dystrophy / absence / hypoplasia of the macula
- Oligodactyly / ectrodactyly of fingers
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Tooth shape anomaly

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Anomalies of eyes and vision
- Complete / partial microdontia
- Multiple caries
- Syndactyly of fingers / interdigital palm

Occasional
- Strabismus / squint


Autosomal dominant nonsyndromic intellectual deficit

(no data available)