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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
6 OMIM references -
4 associated genes
No signs/symptoms info
Premature chromosome condensation with microcephaly and intellectual deficit
Hereditary breast cancer

MCPH1 BRCA1
BRCA2
KLLN
XRCC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MCPH1
(0.75)
BRCA2



Citations in the biomedical literature:


Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1
Hereditary breast cancer
BRCA1 BRCA2 KLLN XRCC2



Premature chromosome condensation with microcephaly and intellectual deficit
Hereditary breast cancer

Synonym(s):
(no synonyms)

Synonym(s):
- Familial breast cancer
- Familial breast carcinoma
- Hereditary breast carcinoma

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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



Hereditary breast cancer

(no data available)