Prepair 1000+

Gene: SSR4

Green List (high evidence)

Type 1 serum sialotransferrin profile. Clinical features include hypotonia, failure to thrive, developmental delay, and dysmorphic traits as well as some features overlapping connective tissue disorders (redundant skin, joint laxity, blue sclerae, and vascular tortuosity).
More than 5 unrelated families reported.

PMID: 38805916 - described clinical features in 22 patients with CDG1Y, including 4 newly reported patients and 18 ascertained through a literature review. All patients had developmental delay, speech delay, impaired intellectual development, muscular hypotonia, and microcephaly. Characteristic facial features included abnormal ears (large, long, abnormally shaped, or low set), thin upper lip, micro/retrognathia, and an abnormal philtrum. Growth failure and failure to thrive were reported in 84% of patients. Ophthalmologic features, including strabismus or abnormal visual acuity, were reported in 80% of patients. Some patients had connective tissue abnormalities, including inguinal hernia, joint laxity, or arachnodactyly. Five patients had cardiovascular abnormalities, including ductus arteriosus, atrial septal defect, ventricular septal defects, or tricuspid insufficiency. Six patients had abnormal coagulation factors

Created: 7 Feb 2025, 12:46 p.m. | Last Modified: 7 Feb 2025, 12:46 p.m.

Panel Version: 1.1566

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Congenital disorder of glycosylation, type Iy MIM#300934

Publications

• 4218363
• 26264460
• 33300232
• 38805916