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Ondine syndrome
1 OMIM reference -
5 associated genes
32 connected diseases
7 signs/symptoms
Disease Type of connection
Hirschsprung disease
Haddad syndrome
Waardenburg-Shah syndrome
Neuroblastoma
WAGR syndrome
Pilocytic astrocytoma
Autosomal dominant nonsyndromic intellectual deficit
Fuchs endothelial corneal dystrophy
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal agammaglobulinemia
Precursor B-cell acute lymphoblastic leukemia
5q14.3 microdeletion syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
20p12.3 microdeletion syndrome
Bilateral renal agenesis
Bilateral renal dysplasia
Brachydactyly type A2
Estrogen resistance syndrome
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Papillary or follicular thyroid carcinoma
Unilateral renal dysplasia
Synonym(s):
- CCHS
- Central congenital hypoventilation syndrome
- Congenital central alveolar hypoventilation syndrome
- Ondine curse
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Very frequent
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Frequent
- Stillbirth / neonatal death

Occasional
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus