Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis; Mfhien
Table of contents:
Description
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).
Genes related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis; Mfhien
- AMMECR1
Clinical Features
Top most frequent phenotypes and symptoms related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis; Mfhien
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Micrognathia
- Strabismus
- Sensorineural hearing impairment
- Abnormal facial shape
- Cleft palate
- Cataract
And another 37 symptoms. If you need more information about this disease we can help you.
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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.
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.
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