Cytoscape Web
Click node...


13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
40 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
3M syndrome

CACNG2 CCDC8
CDH15 CUL7
CTNNB1 OBSL1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYRK1A
(0.72)
CCDC8



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
3M syndrome
CCDC8 CUL7 OBSL1



Autosomal dominant nonsyndromic intellectual deficit
3M syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- 3-M syndrome
- Dolichospondylic dysplasia
- Gloomy face syndrome
- Le Merrer syndrome
- Yakut short stature syndrome

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
13 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references

3M syndrome

Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad forehead
- Delayed bone age
- Frontal bossing / prominent forehead
- Intrauterine growth retardation
- Long / large / bulbous nose
- Metaphyseal anomaly
- Mid-facial hypoplasia / short / small midface
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Pes talus
- Protruding lips
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Short neck
- Short stature / dwarfism / nanism
- Thick / bushy eyebrows
- Triangular face

Frequent
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dolichocephaly / scaphocephaly
- Elbow anomalies(excluding luxation)
- Enamel anomaly
- Hyperextensible joints / articular hyperlaxity
- Long philtrum
- Lordosis
- Pointed chin
- Prominent / bat ears
- Rib structure anomalies
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Wide rib cage / thorax

Occasional
- Cerebral vascular anomalies
- Clinodactyly of fifth finger
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypospadias / epispadias / bent penis
- Kyphosis
- Scoliosis
- Sterility / hypofertility


Autosomal dominant nonsyndromic intellectual deficit

(no data available)