Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
12q13.3
Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. It was first reported in the Lumbee Indian tribe in North Carolina. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 255995.1 | United Arab Emirates | Male | No | Yes | Global developmental delay; Hypotonia; M... Global developmental delay; Hypotonia; Myopathy; Scoliosis; Talipes  | NM_145064.3:c.851G>C | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | |
| 255995.2.1 | Qatar | Female | Yes | Yes | Delayed gross motor development; Kyphosc... Delayed gross motor development; Kyphoscoliosis; Hypotonia; Ptosis; Myopathic facies | NM_145064.3:c.851G>C | Homozygous | Autosomal, Recessive | Telegrafi et al. 2017 | |
| 255995.2.2 | Qatar | Female | Yes | Yes | Delayed gross motor development; Kyphosc... Delayed gross motor development; Kyphoscoliosis; Hypotonia; Ptosis; Myopathic facies | NM_145064.3:c.851G>C | Homozygous | Autosomal, Recessive | Telegrafi et al. 2017 | Older sibling of 255... |