Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_022154.5:c.338G>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616721.1.1 | Lebanon | Global developmental delay; Limb hypertonia; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Peripheral axonal neuropathy; Broad forehead; Hirsutism; Anteverted nares; Thin vermilion border; Smooth philtrum | Female | Yes | Yes | Proband |
616721.1.2 | Lebanon | Profound global developmental delay; Psychomotor retardation; Seizure; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Scoliosis; Broad forehead | Female | Yes | Yes | Sister of 616721.1.1 |
616721.1.3 | Lebanon | Male | Yes | Father of 616721.1.1 | ||
616721.1.5 | Lebanon | Male | Yes | Yes | Brother of 616721.1.1 |