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616789.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay; Hearing impairment; Recurrent otitis media; Hypermetropia; Astigmatism; Hypotonia; Abnormal facial shape; Behavioral abnormality
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015335.4:c.4120del
1
Impaired Intellectual Development and Distinctive Facial Features with or without Cardiac Defects
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Remarks
De novo mutation
References
Saleh et al. 2021
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