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615181.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Hypotonia; Microphthalmia; Macrocephaly; Hydrocephalus; Sensorineural hearing impairment; Seizure; Global developmental delay; Hyperreflexia; Abnormal facial shape; Blindness
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_152490.5:c.448C>T
2
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
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Remarks
Proband
References
Al Dhaibani at al. 2018
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