Unilateral deafness- MedGen UID:
- 435850
- •Concept ID:
- C2607947
- •
- Disease or Syndrome
A unilateral absence of sensory perception of sound.
Deafness, unilateral, with delayed endolymphatic hydrops- MedGen UID:
- 393762
- •Concept ID:
- C2677512
- •
- Disease or Syndrome
Lymphatic malformation 13- MedGen UID:
- 1840915
- •Concept ID:
- C5830279
- •
- Disease or Syndrome
Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Neuroocular syndrome 1- MedGen UID:
- 1053724
- •Concept ID:
- CN377731
- •
- Disease or Syndrome
Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021).
Genetic Heterogeneity of Neuroocular Syndrome
See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.