Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
11q13.1
Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614437.1 | Saudi Arabia | Female | Yes | Feeding difficulties; Generalized hypoto... Feeding difficulties; Generalized hypotonia; Multiple joint dislocation; Delayed gross motor development  | NM_016938.5:c.506G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |