Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
6q25.2
Myogenic-type arthrogryposis multiplex congenita-3 (AMC3) is an autosomal recessive disorder characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618484.1.1 | Jordan | Female | Yes | Yes | Hypotonia; Skeletal muscle atrophy Hypotonia; Skeletal muscle atrophy  | NM_182961.4:c.25741dup | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | |
| 618484.1.2 | Jordan | Male | Yes | Yes | Hypotonia; Skeletal muscle atrophy Hypotonia; Skeletal muscle atrophy | NM_182961.4:c.25741dup | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Brother of 618484.1.... |
| 618484.1.3 | Jordan | Male | Yes | Yes | Hypotonia; Skeletal muscle atrophy Hypotonia; Skeletal muscle atrophy | NM_182961.4:c.25741dup | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Brother of 618484.1.... |