Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Familial congenital mirror movements
Premature chromosome condensation with microcephaly and intellectual deficit

DCC MCPH1
RAD51


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RAD51
(0.75)
MCPH1



Citations in the biomedical literature:


Familial congenital mirror movements
DCC RAD51
Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1



Familial congenital mirror movements
Premature chromosome condensation with microcephaly and intellectual deficit

Synonym(s):
- Familial congenital controlateral synkinesia
- Hereditary congenital controlateral synkinesia
- Hereditary congenital mirror movements
- Isolated congenital controlateral synkinesia
- Isolated congenital mirror movements

Synonym(s):
(no synonyms)

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

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

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

Premature chromosome condensation with microcephaly and intellectual deficit

Very frequent
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism
- Sloping forehead
- Thin / retracted lips

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical anomaly / thick bone cortical layer
- Dilated cerebral ventricles without hydrocephaly
- Hypereflexia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter



Familial congenital mirror movements

(no data available)