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Items: 2

1.

Absent nail of hallux

Absent nail of big toe. [from HPO]

MedGen UID:
866734
Concept ID:
C4021081
Anatomical Abnormality
2.

Temple-Baraitser syndrome

Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010). [from OMIM]

MedGen UID:
395636
Concept ID:
C2678486
Congenital Abnormality; Disease or Syndrome

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