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Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Trisomy Xq28
1 OMIM reference -
1 associated gene
15 signs/symptoms
Atypical teratoid tumor
Trisomy Xq28

SMARCB1
(UniProt - OMIM)
 MECP2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMARCB1
(0.92)
MECP2


Citations in the biomedical literature:


Atypical teratoid tumor
SMARCB1
Trisomy Xq28
MECP2



Atypical teratoid tumor
Trisomy Xq28

Synonym(s):
(no synonyms)

Synonym(s):
- Distal duplication Xq
- Telomeric duplication Xq
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
COMMON
SIGNS 		- Restricted joint mobility / joint stiffness / ankylosis

Atypical teratoid tumor
Trisomy Xq28

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
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders

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


Very frequent
- Blepharophimosis / short palpebral fissures
- Delayed bone age
- Epicanthic folds
- Everted lower lip
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Ptosis
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tented upper lip
- Total / partial trisomy / duplication
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal gait
- Inguinal / inguinoscrotal / crural hernia
- Pectus excavatum