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

MCPH1
(UniProt - OMIM)
 SMARCA4
(UniProt - OMIM)
SMARCB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MCPH1
MCPH1
(0.68)
(0.63)
SMARCB1
SMARCA4


Citations in the biomedical literature:


Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1
Familial rhabdoid tumor
SMARCA4 SMARCB1



Premature chromosome condensation with microcephaly and intellectual deficit
Familial rhabdoid tumor

Synonym(s):
(no synonyms)

Synonym(s):
- RTPS
- Rhabdoid tumor predisposition syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 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



Familial rhabdoid tumor

(no data available)