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Premature chromosome condensation with microcephaly and intellectual deficit
1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Combined cervical dystonia
1 associated gene
No signs/symptoms info
Premature chromosome condensation with microcephaly and intellectual deficit
Combined cervical dystonia

MCPH1
(UniProt - OMIM)
 ATM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MCPH1
(0.52)
ATM


Citations in the biomedical literature:


Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1
Combined cervical dystonia
ATM



Premature chromosome condensation with microcephaly and intellectual deficit
Combined cervical dystonia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No 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



Combined cervical dystonia

(no data available)