Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007171.4:c.226G>C | 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 | |
| 613155.1.2 | Lebanon | Generalized hypotonia; Primary microcephaly; Intellectual disability, severe; Delayed speech and language development; Tetraparesis; Strabismus; Scoliosis; Flexion contracture; Hip dislocation; Left ventricular noncompaction cardiomyopathy; Obstructive sleep apnea; Intellectual disability, moderate; Trigonocephaly; Cerebellar vermis hypoplasia; Hypoplasia of the corpus callosum; Focal white matter lesions | Female | Yes | Yes | Younger sister of the proband 613155.1.1 |
| 613155.1.3 | Lebanon | Female | Yes | Mother of the proband 613155.1.1 |