Chondrodysplasia punctata, X-linked recessive, 302950, X-linked recessive; CDPX1 (Brachytelephalangic chondrodysplasia punctata) (ARSE gene) (Sequence Analysis-All Coding Exons) (Postnatal)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000585489.1
Last updated: 2020-05-19
Annual Review past due read more
Test version history
- 585489.1, last updated: 2020-05-19

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for X-linked chondrodysplasia punctata 1
Offered by Intergen

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from GeneReviews

X-linked chondrodysplasia punctata 1 (CDPX1) is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory involvement, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability.

Imported from Human Phenotype Ontology (HPO)

Anosmia
Hypogonadism
Ichthyosis
Cataract
Short stature
Global developmental delay
Hearing impairment
Depressed nasal bridge
Short distal phalanx of finger
Short nasal septum
Short nose
Epiphyseal stippling
Abnormality of the vertebral column
Microcephaly

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Conditions tested

Chondrodysplasia punctata, X-linked recessive, 302950, X-linked recessive; CDPX1 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Chondrodysplasia punctata, X-linked recessive, 302950, X-linked recessive; CDPX1 (Brachytelephalangic chondrodysplasia punctata) (ARSE gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Indication

Clinical summary

Imported from GeneReviews

Clinical features