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1.

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
2.

Pseudoepiphysis of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. [from HPO]

MedGen UID:
765398
Concept ID:
C3552484
Finding

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