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Items: 2

1.

DEGCAGS syndrome

DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021). [from OMIM]

MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
2.

Unilateral conductive hearing impairment

MedGen UID:
868037
Concept ID:
C4022428
Disease or Syndrome

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