Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
20q13.12
Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615398.1 | Libya | Female | No | Yes | Bilateral tonic-clonic seizure with foca... Bilateral tonic-clonic seizure with focal onset; Global developmental delay; Neonatal hypotonia; Delayed speech and language development; Cerebral atrophy; Cerebellar hypoplasia; Lateral ventricle dilatation; Spastic tetraparesis; Broad forehead; Secondary microcephaly; Deeply set eye; Epicanthus; High palate  | NM_015937.6:c.1519C>T | Homozygous | Autosomal, Recessive | Ben Ayed et al. 2023 | |
| 615398.2.1 | Somalia | Male | Yes | Yes | Intellectual disability, profound; Bilat... Intellectual disability, profound; Bilateral tonic-clonic seizure; Atonic seizure; Epileptic encephalopathy; Sparse hair | NM_015937.6:c.1079G>T | Homozygous | Autosomal, Recessive | Ben Ayed et al. 2023; Bayat et al. 2019 | |
| 615398.2.2 | Somalia | Male | Yes | Yes | Intellectual disability, profound; Epile... Intellectual disability, profound; Epileptic encephalopathy; Sparse hair; Myoclonic seizure; Focal-onset seizure; Hypotonia; Ventriculomegaly | NM_015937.6:c.1079G>T | Homozygous | Autosomal, Recessive | Ben Ayed et al. 2023; Bayat et al. 2019 | Brother of 615398.2.... |