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Cerebellar ataxia-deafness-narcolepsy syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Cerebellar ataxia-deafness-narcolepsy syndrome

Trisomy Xq28

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DNMT1	(0.78)	MECP2

Citations in the biomedical literature:

Cerebellar ataxia-deafness-narcolepsy syndrome		Trisomy Xq28
	Synonym(s): - ADCA-DN - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		Synonym(s): - Distal duplication Xq - Telomeric duplication Xq

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Trisomy Xq28
	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 Occasional - Restricted joint mobility / joint stiffness / ankylosis
Cerebellar ataxia-deafness-narcolepsy syndrome
(no data available)