Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_007171.4:c.226G>C | 1 | |||
NM_001077365.2:c.443C>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613155.1.1 | Lebanon | Generalized hypotonia; Primary microcephaly; Intellectual disability, severe; Delayed speech and language development; Tetraparesis; Strabismus; Scoliosis; Flexion contracture; Hip dislocation; Recurrent fractures; Osteoporosis; Elevated circulating creatine kinase concentration; Respiratory insufficiency due to muscle weakness; Neuromuscular dysphagia; Weight loss; Respiratory tract infection; Death in childhood; Trigonocephaly; Cerebellar vermis hypoplasia | Female | Yes | Yes | |
613155.1.3 | Lebanon | Female | Yes | Mother of the proband 613155.1.1 | ||
613155.1.4 | Lebanon | Male | Yes | Father of the proband 613155.1.1 |