1. Mendelian
  2. Rare Diseases
  3. NORRIE DISEASE; ND

Atypical Norrie Disease Due To Monosomy Xp11.3

Table of contents:

Description

Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Atypical Norrie Disease Due To Monosomy Xp11.3 Is also known as atypical norrie disease due to xp11.3 microdeletion, atypical norrie disease due to del(x)(p11.3).

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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