Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002972.4:c.1327G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615284.3.1 | Saudi Arabia | Syndactyly; Strabismus; Upper limb muscle weakness; Lower limb muscle weakness; Cognitive impairment; Ophthalmoparesis; Weakness of facial musculature; Dysarthria; Areflexia; Brain atrophy; Abnormal myelination; Microcephaly; Short stature | Male | Yes | Yes | |
615284.3.2 | Saudi Arabia | Syndactyly; Upper limb muscle weakness; Lower limb muscle weakness; Cognitive impairment; Weakness of facial musculature; Areflexia; Exotropia; Ophthalmoparesis; Polyneuropathy; Dysphagia; Microcephaly; Short stature; Strabismus | Male | Yes | Yes | Brother of 615284.3.1 |