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Items: 4

1.

Branchiootic syndrome 3

Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. [from GeneReviews]

MedGen UID:
333995
Concept ID:
C1842124
Disease or Syndrome
2.

Commissural lip pits

A depression located at an oral commissure. [from HPO]

MedGen UID:
98001
Concept ID:
C0399605
Finding
3.

Curly hair, ankyloblepharon, nail dysplasia syndrome

CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017). [from OMIM]

MedGen UID:
98035
Concept ID:
C0406733
Disease or Syndrome
4.

Branchiootic syndrome 2

MedGen UID:
377737
Concept ID:
C1852718
Disease or Syndrome
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