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612301.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Widened subarachnoid space; Hydrocephalus; Global developmental delay; Optic atrophy; Seizure; Short stature; Failure to thrive; Abnormal facial shape; Osteopetrosis
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003839.4:c.400G>A
2
Osteopetrosis, Autosomal Recessive 7
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References
Alabdullatif et al. 2017
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