PT C2EDS1T4 (Subject)

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Label

Description

 

Phenotype

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlea...

Phenotype

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal...

Phenotype

Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently r...

Phenotype

Meeting of the medial eyebrows in the midline.

Phenotype

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverte...

Phenotype

Disproportionately small hand.

Phenotype

Increased spaces (diastemata) between most of the teeth in the same dental arch.

Biosample

A biosample from Kids First produced as part of the SD 2CEKQ05V project

Biosample

A biosample from Kids First produced as part of the SD 2CEKQ05V project

Phenotype

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease ...

  • Phenotype

    A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlea...


  • Phenotype

    Intellectual disability, previously referred to as mental retardation, is characterized by subnormal...


  • Phenotype

    Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently r...


  • Phenotype

    Meeting of the medial eyebrows in the midline.


  • Phenotype

    Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverte...


  • Phenotype

    Disproportionately small hand.


  • Phenotype

    Increased spaces (diastemata) between most of the teeth in the same dental arch.


  • Biosample

    A biosample from Kids First produced as part of the SD 2CEKQ05V project


  • Biosample

    A biosample from Kids First produced as part of the SD 2CEKQ05V project


  • Phenotype

    The distal and proximal transverse palmar creases are merged into a single transverse palmar crease ...

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