Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_012160.4:c.1304G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615471.2 | United Arab Emirates | Developmental regression; Hypotonia; Failure to thrive; Microcephaly; Lactic acidosis | Yes | Three siblings died in infancy | ||
615471.5 | United Arab Emirates | Global developmental delay; Delayed speech and language development; Abnormal facial shape; Plagiocephaly; Lactic acidosis; Cerebral atrophy; Leukodystrophy; Abnormal basal ganglia morphology; Thin corpus callosum; Dystonia; Failure to thrive | Male | Yes |