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Absent distal phalanx of the 2nd toe

MedGen UID:
866912
Concept ID:
C4021268
Finding
Synonym: Absent distal phalanges of second toes
 
HPO: HP:0010432

Definition

Absence of distal phalanx of the second toe as a result of developmental aplasia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent distal phalanx of the 2nd toe

Conditions with this feature

Zimmermann-laband syndrome 3
MedGen UID:
1684740
Concept ID:
C5231447
Disease or Syndrome
Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500).

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