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Items: 2

1.

Athabaskan brainstem dysgenesis

Syndrome with characteristics of deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. [from SNOMEDCT_US]

MedGen UID:
330410
Concept ID:
C1832215
Disease or Syndrome
2.

Bosley-Salih-Alorainy syndrome

Syndrome with characteristics of variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies, cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome, however unlike Athabaskan brain dysfunction syndrome it does not manifest central hypoventilation. [from SNOMEDCT_US]

MedGen UID:
321908
Concept ID:
C1832216
Disease or Syndrome

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