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Premature chromosome condensation with microcephaly and intellectual deficit
1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
Premature chromosome condensation with microcephaly and intellectual deficit
Atypical teratoid tumor

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

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


Citations in the biomedical literature:


Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1
Atypical teratoid tumor
SMARCB1



Premature chromosome condensation with microcephaly and intellectual deficit
Atypical teratoid tumor

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Premature chromosome condensation with microcephaly and intellectual deficit
Atypical teratoid tumor

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



Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders

Occasional
- Acute palsy
- Cranial nerves palsy
- Intracranial / cerebral calcifications