Additional findings_Paediatric

Gene: PIGA

Green List (high evidence)

Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterised by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most individuals present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability. More than 10 unrelated families reported.

Created: 19 Dec 2020, 7:45 a.m. | Last Modified: 19 Dec 2020, 7:45 a.m.

Panel Version: 0.181

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

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466

Publications

• 22305531
• 24357517
• 24706016
• 26545172
• 33333793
• 32694024